创建日期
2005-11-16 15:48:42 UTC
更新日期
2021-09-14 15:19:03 UTC
描述
7-Dehydrocholesterol (7-DHC), also known as provitamin D3 or 5,7-cholestadien-3-b-ol, belongs to the class of organic compounds known as cholesterols and derivatives. Cholesterols and derivatives are compounds containing a 3-hydroxylated cholestane core. Thus, 7-dehydrocholesterol is also classified as a sterol. 7-Dehydrocholesterol is known as a zoosterol, meaning that it is a sterol isolated from animals (to distinguish those sterols isolated from plants which are called phytosterols). 7-DHC functions in the serum as a cholesterol precursor and is photochemically converted to vitamin D3 in the skin. Therefore 7-DHC functions as provitamin-D3. The presence of 7-DHC in human skin enables humans and other mammals to manufacture vitamin D3 (cholecalciferol) from ultraviolet rays in the sun light, via an intermediate isomer pre-vitamin D3. 7-DHC absorbs UV light most effectively at wavelengths between 290 and 320 nm and, thus, the production of vitamin D3 will occur primarily at those wavelengths (PMID: 9625080). The two most important factors that govern the generation of pre-vitamin D3 are the quantity (intensity) and quality (appropriate wavelength) of the UVB irradiation reaching the 7-dehydrocholesterol deep in the stratum basale and stratum spinosum (PMID: 9625080). 7-DHC is also found in the milk of several mammalian species, including cows (PMID: 10999630; PMID: 225459). It was discovered by Nobel-laureate organic chemist Adolf Windaus. 7-DHC can be produced by animals and plants via different pathways (PMID: 23717318). It is not produced by fungi in significant amounts. 7-DHC is made by some algae and can also be produced by some bacteria.
同义词
1:(3beta)-Cholesta-5,7-dien-3-ol
2:5,7-Cholestadien-3-beta-ol
3:5,7-Cholestadien-3beta-ol
4:Provitamin D3
5:Cholesta-5,7-dien-3beta-ol
6:(3b)-Cholesta-5,7-dien-3-ol
7:(3Β)-cholesta-5,7-dien-3-ol
8:5,7-Cholestadien-3-b-ol
9:5,7-Cholestadien-3-β-ol
10:5,7-Cholestadien-3b-ol
11:5,7-Cholestadien-3β-ol
12:Cholesta-5,7-dien-3b-ol
13:Cholesta-5,7-dien-3β-ol
14:(-)-7-Dehydrocholesterol
15:10,13-Dimethyl-17-(6-methylheptan-2-yl)-2,3,4,9,11,12,14,15,16,17-decahydro-1H-cyclopenta[a]phenanthren-3-ol
16:17-(1,5-Dimethylhexyl)-10,13-dimethyl-2,3,4,9,10,11,12,13,14,15,16,17-dodecahydro-1H-cyclopenta[a]phenanthren-3-ol
17:5,7-Cholestandien-3-ol
18:5,7-Cholestandien-3beta-ol
19:7,8-Dehydro-cholesterol
20:7,8-Didehydrocholesterol
21:7-Dehydro-cholesterol
22:7-Dehydrocholesterin
23:7DHC
24:Cholesta-5,7-dien-3 beta -ol
25:Cholesta-5,7-dien-3-beta-ol
26:Cholesta-5,7-dien-3-ol
27:Dehydrocholesterin
28:Dehydrocholesterol
29:Delta5,7-Cholestadien-3beta-ol
30:Delta5,7-Cholesterol
31:Delta7-Cholesterol
32:Provitamin-D3
33:Provitamin D(3)
34:Cholesta-5,7-dien-3 beta-ol
35:7-Dehydrocholesterol, (3beta,10alpha)-isomer
36:7-Dehydrocholesterol, (3beta,9beta,10alpha)-isomer
37:7-DHC
38:7-Dehydrocholesterol, (3alpha)-isomer
39:7-Dehydrocholesterol, (3beta,9beta)-isomer
化学名称
(1S,2R,5S,11R,14R,15R)-2,15-dimethyl-14-[(2R)-6-methylheptan-2-yl]tetracyclo[8.7.0.0^{2,7}.0^{11,15}]heptadeca-7,9-dien-5-ol
传统名称
(1S,2R,5S,11R,14R,15R)-2,15-dimethyl-14-[(2R)-6-methylheptan-2-yl]tetracyclo[8.7.0.0^{2,7}.0^{11,15}]heptadeca-7,9-dien-5-ol
代谢物结构字符串
[H][C@@]1(CC[C@@]2([H])C3=CC=C4C[C@@H](O)CC[C@]4(C)[C@@]3([H])CC[C@]12C)[C@H](C)CCCC(C)C
inchi标识符
InChI=1S/C27H44O/c1-18(2)7-6-8-19(3)23-11-12-24-22-10-9-20-17-21(28)13-15-26(20,4)25(22)14-16-27(23,24)5/h9-10,18-19,21,23-25,28H,6-8,11-17H2,1-5H3/t19-,21+,23-,24+,25+,26+,27-/m1/s1
印记键
UCTLRSWJYQTBFZ-DDPQNLDTSA-N
分类学
description: belongs to the class of organic compounds known as cholesterols and derivatives. Cholesterols and derivatives are compounds containing a 3-hydroxylated cholestane core.
description:Cholesterols and derivatives
kingdom:Organic compounds
super_class:Lipids and lipid-like molecules
class:Steroids and steroid derivatives
sub_class:Cholestane steroids
molecular_framework:Aliphatic homopolycyclic compounds
1:3-beta-hydroxy delta-5-steroids
2:3-beta-hydroxysteroids
3:3-hydroxy delta-7-steroids
4:Cyclic alcohols and derivatives
5:Delta-5-steroids
6:Delta-7-steroids
7:Hydrocarbon derivatives
8:Secondary alcohols
9:3-beta-hydroxy-delta-5-steroid
10:3-beta-hydroxysteroid
11:3-hydroxy-delta-5-steroid
12:3-hydroxy-delta-7-steroid
13:3-hydroxysteroid
14:Alcohol
15:Aliphatic homopolycyclic compound
16:Cholesterol
17:Cholesterol-skeleton
18:Cyclic alcohol
19:Delta-5-steroid
20:Delta-7-steroid
21:Hydrocarbon derivative
22:Hydroxysteroid
23:Organic oxygen compound
24:Organooxygen compound
25:Secondary alcohol
26:3beta-sterol
27:Cholestane and derivatives
28:Cholesterol and derivatives
29:Vitamin D3 and derivatives
30:cholestanoid
本体论
term:Physiological effect
definition:The effect on an organism physiology, resulting from its exposure to a chemical.
parent_id:
level:1
type:parent
term:Health effect
definition:A health condition or observation associated with a stimuli or with a biological activity of a chemical.
parent_id:7693
*level:2
type:parent
term:Health condition
definition:A health effect that consists on short or long-term disease, condition, disorder, syndrome or constant abnormality.
parent_id:7694
**level:3
type:parent
term:Smith-lemli-opitz syndrome
definition:
parent_id:7695
***level:4
type:child
synonym:7-dehydrocholesterol reductase deficiency
synonym:Slos
term:Metabolic syndrome
definition:A disorder combining several conditions: cebtral obesity, elevated fasting glucose, triglyceridemia, low hdl, and high blood pressure. it increases the risk of heart attack, stroke, and diabetes mellitus. (nci).
parent_id:7695
***level:4
type:child
synonym:Chaos
synonym:Reaven's syndrome
synonym:Insulin resistance
synonym:Insulin resistance syndrome
synonym:Syndrome x
synonym:Metabolic syndrome x
term:Disposition
definition:A concept that describes the origin of a chemical, its location within an organism, or its route of exposure.
parent_id:
level:1
type:parent
term:Route of exposure
definition:A mean by which a chemical agent comes in contact with an organism, either under intended or unintended circumstances.
parent_id:7724
*level:2
type:parent
term:Enteral
definition:Chemical exposure via the alimentary canal (mouth to anus).
parent_id:7743
**level:3
type:parent
term:Ingestion
definition:Chemical exposure facilitated by entry through the mouth.
parent_id:7744
***level:4
type:child
synonym:Digestion
term:Source
definition:Natural or synthetic origin of a chemical.
parent_id:7724
*level:2
type:parent
term:Endogenous
definition:
parent_id:7735
**level:3
type:child
term:Food
definition:
parent_id:7735
**level:3
type:child
term:Biological
definition:A living organism (species or a higher taxonomy rank), in which a chemical can be found.
parent_id:7735
**level:3
type:parent
term:Animal
definition:A living organism belonging to the kingdom animalia. it feeds on organic matter, typically having specialized sense organs and nervous system and able to respond rapidly to stimuli.
parent_id:7736
***level:4
type:child
synonym:Fauna
term:Plant
definition:A living organism belonging to the kingdom plantea. typically, it grows in a permanent site, absorbs water and inorganic substances through its roots, and synthesizes nutrients in its leaves by photosynthesis using the green pigment chlorophyll. examples incude trees, shrubs, herbs, grasses, ferns, and mosses.
parent_id:7736
***level:4
type:parent
synonym:Flora
term:Biological location
definition:The physiological origin within an organism, including anatomical compnents, biofluids and excreta.
parent_id:7724
*level:2
type:parent
term:Tissue and substructures
definition:An anatomical organizational level including multiple cells yet not comprising a complete organ .
parent_id:7725
**level:3
type:parent
term:Hepatic tissue
definition:The tissue of the liver. It includes the hepatic lobules, hepatic sinusoids, perisinusoidal spaces, and portal triad. The hepatic lobules are composed of hepatocytes. (NCI Thesaurus).
parent_id:7729
***level:4
type:child
synonym:Liver tissue
term:All tissues
definition:All tissues in the body of the organism.
parent_id:7729
***level:4
type:child
term:Adipose tissue
definition:A specialized form of connective tissue consisting primarily of adipocytes (fat cells), surrounded by a meshwork of collagen fibers. (NCI)
parent_id:7729
***level:4
type:child
synonym:Fat tissue
synonym:Body fat
synonym:Adipose
term:Organ and components
definition:An anatomical organizational level including multiple tissues or substructures, which enables a common biological function.
parent_id:7725
**level:3
type:parent
term:Testicle
definition:Either of the paired male reproductive glands that produce the male germ cells and the male hormones. (nci).
parent_id:7727
***level:4
type:child
synonym:Testes
synonym:Testis
term:Brain
definition:An organ composed of grey and white matter that is the center for intelligence and reasoning. it is protected by the bony cranium. (nci).
parent_id:7727
***level:4
type:child
term:Liver
definition:An abdominal organ that has variable lobation which are composed mainly of hepatic lobules. (nci).
parent_id:7727
***level:4
type:child
term:Skin
definition:An organ that constitutes the external surface of the body. it consists of the epidermis, dermis, and skin appendages. (nci).
parent_id:7727
***level:4
type:child
term:Endocrine gland
definition:
parent_id:7727
***level:4
type:parent
term:Cell and elements
definition:An anatomical organizational level comprising of a single cell (or a fragment in some exceptions). a cell is defined by its type or function. it is the smallest unit of living structure capable of independent existence, composed of a membrane-enclosed mass of protoplasm and containing a nucleus or nucleoid.
parent_id:7725
**level:3
type:parent
term:Extracellular
definition:The space external to the outermost structure of a cell.
parent_id:7732
***level:4
type:child
synonym:Extracellular region
term:Cell
definition:
parent_id:7732
***level:4
type:parent
term:Biofluid and excreta
definition:A liquid, semi-solid or solid material originating in the body.
parent_id:7725
**level:3
type:parent
term:Urine
definition:Excretion in liquid state processed by the kidney.
parent_id:7731
***level:4
type:child
term:Blood
definition:A liquid tissue with the primary function of transporting oxygen and carbon dioxide (nci). it supplies the tissues with nutrients, removes waste products, and contains various components of the immune system defending the body against infection.
parent_id:7731
***level:4
type:child
term:Cerebrospinal fluid
definition:The fluid that is contained within the brain ventricles, the subarachnoid space and the central canal of the spinal cord. (nci).
parent_id:7731
***level:4
type:child
synonym:Csf
term:Subcellular
definition:An anatomical organizational level including a component within a biological cell .
parent_id:7725
**level:3
type:parent
term:Cytoplasm
definition:The portion of the cell contained within the plasma membrane but excluding the nucleus.
parent_id:7730
***level:4
type:child
synonym:Cytoplasma
term:Membrane
definition:
parent_id:7730
***level:4
type:child
term:Endoplasmic reticulum
definition:A network of tubular membranes within the cytoplasm of the cell, occurring either with a smooth surface (smooth endoplasmic reticulum) or studded with ribosomes (rough endoplasmic reticulum), involved in the transport of materials. (Infoplease Dictionary via NCI)
parent_id:7730
***level:4
type:child
synonym:Er
term:Cell membrane
definition:A cellular compartment that separates a cellВ interiorВ from its exterior.
parent_id:7730
***level:4
type:child
synonym:Cellular membrane
term:Process
definition:Biological or chemical events, or a series thereof, leading to a known function or end-product.
parent_id:
level:1
type:parent
term:Naturally occurring process
definition:Naturally-occurring molecular events or a series thereof, leading to a known function or end-product.
parent_id:7659
*level:2
type:parent
term:Biological process
definition:Biological or chemical events or a series thereof, leading to a known function or end-product within an organism.
parent_id:7660
**level:3
type:parent
term:Biochemical process
definition:A biological process occurring at the subcellular level, involving biochemical reactions.
parent_id:7661
***level:4
type:parent
term:Chemical reaction
definition:A defined chemical event that occurs within or between organism cells.
parent_id:7661
***level:4
type:parent
term:Multicellular process
definition:A biological process occurring in multiple cells, of similar or different type.
parent_id:7661
***level:4
type:parent
term:Cellular process
definition:A biological process occurring within a cell or its surroundings.
parent_id:7661
***level:4
type:parent
term:Biochemical pathway
definition:A linked series of chemical reactions that occur in a defined order within or between organism cells, and lead to a known function or end product.
parent_id:7661
***level:4
type:parent
term:Role
definition:The purpose or function assumed by a chemical, either naturally or as intended by humans .
parent_id:
level:1
type:parent
term:Biological role
definition:The biological function of a chemical. the biological role answers the question how a chemical is involved in molecular processes in an organism. this can include biochemical effects of non-endogenous chemicals, which are also assigned an industrial application such as pharmaceuticals. the biological role is limited to cellular levls, and will not include role at system process level, such as a chemical which has a role in a disease.
parent_id:7671
*level:2
type:parent
term:Membrane stabilizer
definition:A chemical substance that supports the formation and maintenance of a structurally-sound and functioning cell or organelle membrane. Phospholipids form a bilayer and maintain the stability of the membrane structure together with proteins, and other lipids (i.e. cholesterol) which further strengthen it and decrease its permeability.
parent_id:7672
**level:3
type:child
synonym:Membrane stability agent
synonym:Membrane integrity agent
term:Energy source
definition:
parent_id:7672
**level:3
type:child
term:Energy storage
definition:A chemical substance which can be utilized for production of energy in the organism.
parent_id:7672
**level:3
type:child
term:Inflammatory
definition:a chemical substance or preparation that triggers an immune response expressed as inflammation in the body of animals and humans.
parent_id:7672
**level:3
type:child
synonym:Inflammation agent
term:Molecular messenger
definition: a chemical substance that is involved in transmission of biochemical signals.
parent_id:7672
**level:3
type:parent
term:Hormone
definition:Substances produces in animals or plant that regulate the activity of certain organs or control processes in other parts of the plant.
parent_id:7677
***level:4
type:child
term:Signaling molecule
definition:A chemical substance that particpiates in signal transduction processes in a living cell.
parent_id:7677
***level:4
type:child
synonym:Signalling molecule
synonym:Signaling agent
synonym:Cell signaling agent
term:Industrial application
definition:The assumed function of a chemical utilized by human.
parent_id:7671
*level:2
type:parent
term:Surfactant
definition:A chemical substance that has the ability to lower the surface tension of water or to reduce the interfacial tension between two immiscible substances. in the cspa consumer product ingredients dictionary, surfactants are classified on the basis of their ionic characteristics, as amphoteric, anionic, cationic, or nonionic; and functions, which are subdivided into the following major groups: surfactant - cleaning agent, surfactant - conditioning agent, surfactant - emulsifying agent, surfactant - foam booster , surfactant hydrotrop , surfactant - solubility agent, surfactant - suspending agent.
parent_id:7678
**level:3
type:child
synonym:Surface-active agent
term:Emulsifier
definition:Substances that promote the formation and stability of a suspension of fine particles of a liquid in another liquid.
parent_id:7678
**level:3
type:child
实验性质
1:
kind:water_solubility
value:1 mg/mL
source:
2:
kind:melting_point
value:150.5 °C
source:
预测性质
1:
kind:logp
value:7.30
source:ALOGPS
2:
kind:logs
value:-6.41
source:ALOGPS
3:
kind:solubility
value:1.480E-04 g/L
source:ALOGPS
4:
kind:logp
value:6.71
source:ChemAxon
5:
kind:pka_strongest_acidic
value:18.27
source:ChemAxon
6:
kind:pka_strongest_basic
value:-1.4
source:ChemAxon
7:
kind:iupac
value:(1S,2R,5S,11R,14R,15R)-2,15-dimethyl-14-[(2R)-6-methylheptan-2-yl]tetracyclo[8.7.0.0^{2,7}.0^{11,15}]heptadeca-7,9-dien-5-ol
source:ChemAxon
8:
kind:average_mass
value:384.6377
source:ChemAxon
9:
kind:mono_mass
value:384.33921603
source:ChemAxon
10:
kind:smiles
value:[H][C@@]1(CC[C@@]2([H])C3=CC=C4C[C@@H](O)CC[C@]4(C)[C@@]3([H])CC[C@]12C)[C@H](C)CCCC(C)C
source:ChemAxon
11:
kind:formula
value:C27H44O
source:ChemAxon
12:
kind:inchi
value:InChI=1S/C27H44O/c1-18(2)7-6-8-19(3)23-11-12-24-22-10-9-20-17-21(28)13-15-26(20,4)25(22)14-16-27(23,24)5/h9-10,18-19,21,23-25,28H,6-8,11-17H2,1-5H3/t19-,21+,23-,24+,25+,26+,27-/m1/s1
source:ChemAxon
13:
kind:inchikey
value:UCTLRSWJYQTBFZ-DDPQNLDTSA-N
source:ChemAxon
14:
kind:polar_surface_area
value:20.23
source:ChemAxon
15:
kind:refractivity
value:121.47
source:ChemAxon
16:
kind:polarizability
value:50.01
source:ChemAxon
17:
kind:rotatable_bond_count
value:5
source:ChemAxon
18:
kind:acceptor_count
value:1
source:ChemAxon
19:
kind:donor_count
value:1
source:ChemAxon
20:
kind:physiological_charge
value:0
source:ChemAxon
21:
kind:formal_charge
value:0
source:ChemAxon
22:
kind:number_of_rings
value:4
source:ChemAxon
23:
kind:bioavailability
value:Yes
source:ChemAxon
24:
kind:rule_of_five
value:No
source:ChemAxon
25:
kind:ghose_filter
value:No
source:ChemAxon
26:
kind:veber_rule
value:Yes
source:ChemAxon
27:
kind:mddr_like_rule
value:No
source:ChemAxon
1:
type:Specdb::CMs
spectrum_id:11078
2:
type:Specdb::CMs
spectrum_id:37256
3:
type:Specdb::CMs
spectrum_id:137685
4:
type:Specdb::CMs
spectrum_id:145419
5:
type:Specdb::NmrOneD
spectrum_id:1041
6:
type:Specdb::NmrTwoD
spectrum_id:1099
7:
type:Specdb::MsMs
spectrum_id:51
8:
type:Specdb::MsMs
spectrum_id:52
9:
type:Specdb::MsMs
spectrum_id:53
10:
type:Specdb::MsMs
spectrum_id:290434
11:
type:Specdb::MsMs
spectrum_id:290435
12:
type:Specdb::MsMs
spectrum_id:290436
13:
type:Specdb::MsMs
spectrum_id:330106
14:
type:Specdb::MsMs
spectrum_id:330107
15:
type:Specdb::MsMs
spectrum_id:330108
16:
type:Specdb::MsMs
spectrum_id:1471328
17:
type:Specdb::MsMs
spectrum_id:2660710
18:
type:Specdb::MsMs
spectrum_id:2660711
19:
type:Specdb::MsMs
spectrum_id:2660712
20:
type:Specdb::MsMs
spectrum_id:3020739
21:
type:Specdb::MsMs
spectrum_id:3020740
22:
type:Specdb::MsMs
spectrum_id:3020741
生物学性质
1:
cellular:(1):Cytoplasm
cellular:(2):Endoplasmic reticulum
cellular:(3):Extracellular
cellular:(4):Membrane
2:
biospecimen:(1):Blood
biospecimen:(2):Cerebrospinal Fluid (CSF)
biospecimen:(3):Urine
3:
tissue:(1):Adrenal Gland
tissue:(2):Brain
tissue:(3):Epidermis
tissue:(4):Fibroblasts
tissue:(5):Liver
tissue:(6):Testis
4:
[1]:
name:Alendronate Action Pathway
smpdb_id:SMP00095
kegg_map_id:
[2]:
name:Atorvastatin Action Pathway
smpdb_id:SMP00131
kegg_map_id:
[3]:
name:Cerivastatin Action Pathway
smpdb_id:SMP00111
kegg_map_id:
[4]:
name:CHILD Syndrome
smpdb_id:SMP00387
kegg_map_id:
[5]:
name:Cholesteryl ester storage disease
smpdb_id:SMP00508
kegg_map_id:
[6]:
name:Chondrodysplasia Punctata II, X Linked Dominant (CDPX2)
smpdb_id:SMP00388
kegg_map_id:
[7]:
name:Desmosterolosis
smpdb_id:SMP00386
kegg_map_id:
[8]:
name:Fluvastatin Action Pathway
smpdb_id:SMP00119
kegg_map_id:
[9]:
name:Hyper-IgD syndrome
smpdb_id:SMP00509
kegg_map_id:
[10]:
name:Hypercholesterolemia
smpdb_id:SMP00209
kegg_map_id:
[11]:
name:Ibandronate Action Pathway
smpdb_id:SMP00079
kegg_map_id:
[12]:
name:Lovastatin Action Pathway
smpdb_id:SMP00099
kegg_map_id:
[13]:
name:Lysosomal Acid Lipase Deficiency (Wolman Disease)
smpdb_id:SMP00319
kegg_map_id:
[14]:
name:Mevalonic aciduria
smpdb_id:SMP00510
kegg_map_id:
[15]:
name:Pamidronate Action Pathway
smpdb_id:SMP00117
kegg_map_id:
[16]:
name:Pravastatin Action Pathway
smpdb_id:SMP00089
kegg_map_id:
[17]:
name:Risedronate Action Pathway
smpdb_id:SMP00112
kegg_map_id:
[18]:
name:Rosuvastatin Action Pathway
smpdb_id:SMP00092
kegg_map_id:
[19]:
name:Simvastatin Action Pathway
smpdb_id:SMP00082
kegg_map_id:
[20]:
name:Smith-Lemli-Opitz Syndrome (SLOS)
smpdb_id:SMP00389
kegg_map_id:
[21]:
name:Steroid Biosynthesis
smpdb_id:SMP00023
kegg_map_id:map00100
[22]:
name:Wolman disease
smpdb_id:SMP00511
kegg_map_id:
[23]:
name:Zoledronate Action Pathway
smpdb_id:SMP00107
kegg_map_id:
正常浓度
1:
biospecimen:Blood
concentration_value:<0.65
concentration_units:uM
subject_age:Children (1-13 years old)
subject_sex:Male
subject_condition:Normal
2:
biospecimen:Blood
concentration_value:
concentration_units:
subject_age:Adult (>18 years old)
subject_sex:Both
subject_condition:Normal
3:
biospecimen:Blood
concentration_value:5.0 +/- 2.2
concentration_units:uM
subject_age:Adult (>18 years old)
subject_sex:Both
subject_condition:Normal
4:
biospecimen:Cerebrospinal Fluid (CSF)
concentration_value:0 - 0.02
concentration_units:uM
subject_age:Adult (>18 years old)
subject_sex:Both
subject_condition:Normal
5:
biospecimen:Urine
concentration_value:
concentration_units:
subject_age:Adult (>18 years old)
subject_sex:Both
subject_condition:Normal
6:
biospecimen:Urine
concentration_value:0.029 (0.0068-0.051)
concentration_units:umol/mmol creatinine
subject_age:Adult (>18 years old)
subject_sex:Both
subject_condition:Normal
异常浓度
1:
biospecimen:Blood
concentration_value:0.21
concentration_units:uM
patient_age:Children (1-13 years old)
patient_sex:Male
patient_information:Lathosterolosis
2:
biospecimen:Blood
concentration_value:369.0 (46.0 - 1220.0)
concentration_units:uM
patient_age:Adult (>18 years old)
patient_sex:Both
patient_information:Smith-Lemli-Opitz syndrome
3:
biospecimen:Cerebrospinal Fluid (CSF)
concentration_value:0.3 +/- 0.2 (0.1 - 0.6)
concentration_units:uM
patient_age:Infant (0-1 year old)
patient_sex:Both
patient_information:Smith-Lemli-Opitz syndrome
疾病参考
1:
name:Lathosterolosis
omim_id:607330
[1]:
reference_text:Brunetti-Pierri N, Corso G, Rossi M, Ferrari P, Balli F, Rivasi F, Annunziata I, Ballabio A, Russo AD, Andria G, Parenti G: Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase. Am J Hum Genet. 2002 Oct;71(4):952-8. Epub 2002 Aug 20.
pubmed_id:12189593
[2]:
reference_text:Ho AC, Fung CW, Siu TS, Ma OC, Lam CW, Tam S, Wong VC: Lathosterolosis: a disorder of cholesterol biosynthesis resembling smith-lemli-opitz syndrome. JIMD Rep. 2014;12:129-34. doi: 10.1007/8904_2013_255. Epub 2013 Oct 20.
pubmed_id:24142275
2:
name:Smith-Lemli-Opitz syndrome
omim_id:270400
[1]:
reference_text:van Rooij A, Nijenhuis AA, Wijburg FA, Schutgens RB: Highly increased CSF concentrations of cholesterol precursors in Smith-Lemli-Opitz syndrome. J Inherit Metab Dis. 1997 Aug;20(4):578-80.
pubmed_id:9266395
[2]:
reference_text:Honda M, Tint GS, Honda A, Salen G, Shefer S, Batta AK, Matsuzaki Y, Tanaka N: Regulation of cholesterol biosynthetic pathway in patients with the Smith-Lemli-Opitz syndrome. J Inherit Metab Dis. 2000 Jul;23(5):464-74.
pubmed_id:10947201
[3]:
reference_text:Rossi M, Federico G, Corso G, Parenti G, Battagliese A, Frascogna AR, Della Casa R, Dello Russo A, Strisciuglio P, Saggese G, Andria G: Vitamin D status in patients affected by Smith-Lemli-Opitz syndrome. J Inherit Metab Dis. 2005;28(1):69-80.
pubmed_id:15702407
[4]:
reference_text:Johnson DW, ten Brink HJ, Jakobs C: A rapid screening procedure for cholesterol and dehydrocholesterol by electrospray ionization tandem mass spectrometry. J Lipid Res. 2001 Oct;42(10):1699-705.
pubmed_id:11590227
维基百科编号
7-Dehydrocholesterol
综合参考
William G. Dauben, Jerome F. Eastham, and Robert A. Micheli A new method for the preparation of 7-dehydrocholesterol. Journal of the American Chemical Society (1951), 73 4496.
一般参考
1:
protein_accession:HMDBP00040
name:Hydroxymethylglutaryl-CoA synthase, mitochondrial
uniprot_id:P54868
gene_name:HMGCS2
protein_type:Enzyme
2:
protein_accession:HMDBP00135
name:Lathosterol oxidase
uniprot_id:O75845
gene_name:SC5DL
protein_type:Unknown
3:
protein_accession:HMDBP00440
name:Non-specific lipid-transfer protein
uniprot_id:P22307
gene_name:SCP2
protein_type:Enzyme
4:
protein_accession:HMDBP00548
name:7-dehydrocholesterol reductase
uniprot_id:Q9UBM7
gene_name:DHCR7
protein_type:Enzyme
5:
protein_accession:HMDBP00724
name:Cholesterol side-chain cleavage enzyme, mitochondrial
uniprot_id:P05108
gene_name:CYP11A1
protein_type:Unknown
6:
protein_accession:HMDBP01935
name:Delta(24)-sterol reductase
uniprot_id:Q15392
gene_name:DHCR24
protein_type:Unknown
蛋白质结合
1:
reference_text:Lehmann B, Genehr T, Knuschke P, Pietzsch J, Meurer M: UVB-induced conversion of 7-dehydrocholesterol to 1alpha,25-dihydroxyvitamin D3 in an in vitro human skin equivalent model. J Invest Dermatol. 2001 Nov;117(5):1179-85.
pubmed_id:11710930
2:
reference_text:Muzzin KB, Harper LF: Smith-Lemli-Opitz syndrome: a review, case report and dental implications. Spec Care Dentist. 2003;23(1):22-7.
pubmed_id:12887150
3:
reference_text:Paterson CR, Moody JP, Pennington CR: Skin content of 7-dehydrocholesterol in patients with malabsorption. Nutrition. 1997 Sep;13(9):771-3.
pubmed_id:9290088
4:
reference_text:Jira PE, Wevers RA, de Jong J, Rubio-Gozalbo E, Janssen-Zijlstra FS, van Heyst AF, Sengers RC, Smeitink JA: Simvastatin. A new therapeutic approach for Smith-Lemli-Opitz syndrome. J Lipid Res. 2000 Aug;41(8):1339-46.
pubmed_id:10946022
5:
reference_text:Johnson DW, ten Brink HJ, Jakobs C: A rapid screening procedure for cholesterol and dehydrocholesterol by electrospray ionization tandem mass spectrometry. J Lipid Res. 2001 Oct;42(10):1699-705.
pubmed_id:11590227
6:
reference_text:van Rooij A, Nijenhuis AA, Wijburg FA, Schutgens RB: Highly increased CSF concentrations of cholesterol precursors in Smith-Lemli-Opitz syndrome. J Inherit Metab Dis. 1997 Aug;20(4):578-80.
pubmed_id:9266395
7:
reference_text:Andersson HC, Frentz J, Martinez JE, Tuck-Muller CM, Bellizaire J: Adrenal insufficiency in Smith-Lemli-Opitz syndrome. Am J Med Genet. 1999 Feb 19;82(5):382-4.
pubmed_id:10069708
8:
reference_text:GarciaFuentes E, icioso Recio MV, del Castillo Acedo Del Olmo E, atas Jurado MM, Arana Aguera M, Lopez Lopez J: [Biochemical diagnosis of Smith-Lemli-Opitz syndrome in a patient with congenital adrenal hyperplasia]. An Esp Pediatr. 2000 Nov;53(5):482-7.
pubmed_id:11141372
9:
reference_text:Jezela-Stanek A, Malunowicz EM, Ciara E, Popowska E, Goryluk-Kozakiewicz B, Spodar K, Czerwiecka M, Jezuita J, Nowaczyk MJ, Krajewska-Walasek M: Maternal urinary steroid profiles in prenatal diagnosis of Smith-Lemli-Opitz syndrome: first patient series comparing biochemical and molecular studies. Clin Genet. 2006 Jan;69(1):77-85.
pubmed_id:16451140
10:
reference_text:Moody JP, Humphries CA, Allan SM, Paterson CR: Determination of 7-dehydrocholesterol in human skin by high-performance liquid chromatography. J Chromatogr. 1990 Aug 24;530(1):19-27.
pubmed_id:2277111
11:
reference_text:Simons K, Toomre D: Lipid rafts and signal transduction. Nat Rev Mol Cell Biol. 2000 Oct;1(1):31-9.
pubmed_id:11413487
12:
reference_text:Watson AD: Thematic review series: systems biology approaches to metabolic and cardiovascular disorders. Lipidomics: a global approach to lipid analysis in biological systems. J Lipid Res. 2006 Oct;47(10):2101-11. Epub 2006 Aug 10.
pubmed_id:16902246
13:
reference_text:Sethi JK, Vidal-Puig AJ: Thematic review series: adipocyte biology. Adipose tissue function and plasticity orchestrate nutritional adaptation. J Lipid Res. 2007 Jun;48(6):1253-62. Epub 2007 Mar 20.
pubmed_id:17374880
14:
reference_text:Lingwood D, Simons K: Lipid rafts as a membrane-organizing principle. Science. 2010 Jan 1;327(5961):46-50. doi: 10.1126/science.1174621.
pubmed_id:20044567
15:
reference_text:Dietschy JM, Turley SD: Thematic review series: brain Lipids. Cholesterol metabolism in the central nervous system during early development and in the mature animal. J Lipid Res. 2004 Aug;45(8):1375-97.
pubmed_id:15254070
16:
reference_text:O'Byrne SM, Blaner WS: Retinol and retinyl esters: biochemistry and physiology. J Lipid Res. 2013 Jul;54(7):1731-43. doi: 10.1194/jlr.R037648. Epub 2013 Apr 26.
pubmed_id:23625372
17:
reference_text:Norman AW: Sunlight, season, skin pigmentation, vitamin D, and 25-hydroxyvitamin D: integral components of the vitamin D endocrine system. Am J Clin Nutr. 1998 Jun;67(6):1108-10. doi: 10.1093/ajcn/67.6.1108.
pubmed_id:9625080
18:
reference_text:Gomis DB, Fernandez MP, Gutierrez Alvarez MD: Simultaneous determination of fat-soluble vitamins and provitamins in milk by microcolumn liquid chromatography. J Chromatogr A. 2000 Sep 1;891(1):109-14. doi: 10.1016/s0021-9673(00)00623-3.
pubmed_id:10999630
19:
reference_text:Adachi A, Kobayashi T: Identification of vitamin D3 and 7-dehydrocholesterol in cow's milk by gas chromatography-mass spectrometry and their quantitation by high-performance liquid chromatography. J Nutr Sci Vitaminol (Tokyo). 1979;25(2):67-78. doi: 10.3177/jnsv.25.67.
pubmed_id:225459
20:
reference_text:Japelt RB, Jakobsen J: Vitamin D in plants: a review of occurrence, analysis, and biosynthesis. Front Plant Sci. 2013 May 13;4:136. doi: 10.3389/fpls.2013.00136. eCollection 2013.
pubmed_id:23717318
21:
reference_text:The lipid handbook with CD-ROM
22:
reference_text:Triglycerides and Cholesterol Research