SMPDB_ID

SMP0000386

PW_ID

PW000097

图片

主题

Disease

描述

Desmosterolosis is caused by a mutation in the DHCR24 gene, which codes for the enzyme 24-dehydrocholesterol reductase, which catalyzes the reduction of the delta-24 double bond of sterol intermediates. A defect in 24-dehydrocholesterol reductase causes accumulation of desmosterol in plasma. Symptoms include cleft palate, clubfoot, dysmorphism, mental and motor retardation, and speech development.

代谢物

SMPDB ID	代谢物id	代谢物的名字
SMP0000386	PW_C040704	Cholesterol Ester
SMP0000386	PW_C040705	Fatty acid
SMP0000386	PW_C001360	8-Dehydrocholesterol
SMP0000386	PW_C000699	Vitamin D3
SMP0000386	PW_C001690	Desmosterol
SMP0000386	PW_C000047	Cholesterol
SMP0000386	PW_C000022	7-Dehydrocholesterol
SMP0000386	PW_C001989	7-Dehydrodesmosterol
SMP0000386	PW_C000908	Lathosterol
SMP0000386	PW_C002964	5a-Cholest-8-en-3b-ol
SMP0000386	PW_C002965	5a-Cholesta-7,24-dien-3b-ol
SMP0000386	PW_C002697	Zymosterol intermediate 2
SMP0000386	PW_C000946	4a-Methylzymosterol
SMP0000386	PW_C002961	3-Keto-4-methylzymosterol
SMP0000386	PW_C009794	Iron
SMP0000386	PW_C003009	4a-Methylzymosterol-4-carboxylic acid
SMP0000386	PW_C002963	4,4-Dimethyl-5a-cholesta-8-en-3b-ol
SMP0000386	PW_C000994	4,4-Dimethyl-5a-cholesta-8,24-dien-3-b-ol
SMP0000386	PW_C001799	Heme
SMP0000386	PW_C000092	Formic acid
SMP0000386	PW_C000809	4,4-Dimethylcholesta-8,14,24-trienol
SMP0000386	PW_C002962	24,25-Dihydrolanosterol
SMP0000386	PW_C000966	Lanosterin
SMP0000386	PW_C000964	FAD
SMP0000386	PW_C000924	(S)-2,3-Epoxysqualene
SMP0000386	PW_C001065	Oxygen
SMP0000386	PW_C000143	NADP
SMP0000386	PW_C000175	Squalene
SMP0000386	PW_C000146	NADPH
SMP0000386	PW_C000768	Farnesyl pyrophosphate
SMP0000386	PW_C000170	Pyrophosphate
SMP0000386	PW_C000993	Geranyl-PP
SMP0000386	PW_C000423	Magnesium
SMP0000386	PW_C000874	Dimethylallylpyrophosphate
SMP0000386	PW_C001316	Carbon dioxide
SMP0000386	PW_C001039	Isopentenyl pyrophosphate
SMP0000386	PW_C001104	Phosphate
SMP0000386	PW_C000857	(S)-5-Diphosphomevalonic acid
SMP0000386	PW_C001034	Adenosine diphosphate
SMP0000386	PW_C001036	Mevalonic acid-5P
SMP0000386	PW_C000414	Adenosine triphosphate
SMP0000386	PW_C000152	Mevalonic acid
SMP0000386	PW_C001063	3-Hydroxy-3-methylglutaryl-CoA
SMP0000386	PW_C001420	Water
SMP0000386	PW_C001099	Coenzyme A
SMP0000386	PW_C001142	Acetoacetyl-CoA
SMP0000386	PW_C000940	Acetyl-CoA

蛋白质

SMPDB ID	蛋白质id	蛋白质的名字
SMP0000386	P38571	Lysosomal acid lipase/cholesteryl ester hydrolase
SMP0000386	P35610	Sterol O-acyltransferase 1
SMP0000386	P04035	3-hydroxy-3-methylglutaryl-coenzyme A reductase
SMP0000386	O75845	Lathosterol oxidase
SMP0000386	Q15125	3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase
SMP0000386	P56937	3-keto-steroid reductase
SMP0000386	Q15738	Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating
SMP0000386	Q15800	Methylsterol monooxygenase 1
SMP0000386	O76062	Delta(14)-sterol reductase
SMP0000386	Q16850	Lanosterol 14-alpha demethylase
SMP0000386	Q15392	Delta(24)-sterol reductase
SMP0000386	P48449	Lanosterol synthase
SMP0000386	Q14534	Squalene monooxygenase
SMP0000386	P37268	Squalene synthase
SMP0000386	O95749	Geranylgeranyl pyrophosphate synthase
SMP0000386	P14324	Farnesyl pyrophosphate synthase
SMP0000386	Q13907	Isopentenyl-diphosphate Delta-isomerase 1
SMP0000386	P53602	Diphosphomevalonate decarboxylase
SMP0000386	Q15126	Phosphomevalonate kinase
SMP0000386	Q03426	Mevalonate kinase
SMP0000386	Q01581	Hydroxymethylglutaryl-CoA synthase, cytoplasmic
SMP0000386	Q9BWD1	Acetyl-CoA acetyltransferase, cytosolic