SMPDB_ID

SMP0000314

PW_ID

PW000192

图片

主题

Disease

描述

Congenital Bile Acid Synthesis Defect Type II is a congenital defect in bile acid synthesis with delta(4)-3-oxosteroid 5-beta-reductase deficiency is caused by mutation in the AKR1D1 gene. 3-oxo-5-beta-steroid 4-dehydrogenase catalyzes the bile acid intermediates 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one and 7-alpha-hydroxy-4-cholesten-3-one. Chenodeoxycholic acid and cholic acid are decreased in plasma and urine. Symptoms of this disease include cholestatic jaundice, atypical oxo and allo bile acids in urine and serum, liver failure, and steatosis.

代谢物

SMPDB ID	代谢物id	代谢物的名字
SMP0000314	PW_C007986	7 alpha,26-Dihydroxy-4-cholesten-3-one
SMP0000314	PW_C009794	Iron
SMP0000314	PW_C000487	Deoxycholic acid
SMP0000314	PW_C000491	Deoxycholic acid glycine conjugate
SMP0000314	PW_C000715	Taurodeoxycholic acid
SMP0000314	PW_C000608	Lithocholic acid
SMP0000314	PW_C000550	Lithocholic acid glycine conjugate
SMP0000314	PW_C000573	Lithocholyltaurine
SMP0000314	PW_C007985	7alpha-Hydroxy-3-oxo-4-cholestenoate
SMP0000314	PW_C007981	3beta,7alpha-Dihydroxy-5-cholestenoate
SMP0000314	PW_C007980	3 beta-Hydroxy-5-cholestenoate
SMP0000314	PW_C002703	7-a,27-Dihydroxycholesterol
SMP0000314	PW_C001414	27-Hydroxycholesterol
SMP0000314	PW_C002702	7-a,25-Dihydroxycholesterol
SMP0000314	PW_C002687	25-Hydroxycholesterol
SMP0000314	PW_C007230	(24R)-Cholest-5-ene-3-beta,7-alpha,24-triol
SMP0000314	PW_C001095	24-Hydroxycholesterol
SMP0000314	PW_C000025	Taurocholic acid
SMP0000314	PW_C001062	Choloyl-CoA
SMP0000314	PW_C002992	3a,7a,12a,24-Tetrahydroxy-5b-cholestanoyl-CoA
SMP0000314	PW_C002991	3a,7a,12a-Trihydroxy-5b-cholest-24-enoyl-CoA
SMP0000314	PW_C001034	Adenosine diphosphate
SMP0000314	PW_C002993	3a,7a,12a-Trihydroxy-5b-24-oxocholestanoyl-CoA
SMP0000314	PW_C001985	3alpha,7alpha,12alpha-Trihydroxy-5beta-cholestanoic acid
SMP0000314	PW_C001913	3a,7a,12a-Trihydroxy-5b-cholestan-26-al
SMP0000314	PW_C002990	5b-Cyprinol sulfate
SMP0000314	PW_C000953	27-Deoxy-5b-cyprinol
SMP0000314	PW_C001125	5-b-Cholestane-3a ,7a ,12a-triol
SMP0000314	PW_C002989	7a,12a-Dihydroxy-5b-cholestan-3-one
SMP0000314	PW_C000145	Palmitic acid
SMP0000314	PW_C002900	CE(22:2(13Z,16Z))
SMP0000314	PW_C000047	Cholesterol
SMP0000314	PW_C001482	7a,12a-Dihydroxy-cholestene-3-one
SMP0000314	PW_C001144	NADH
SMP0000314	PW_C001153	7a-Hydroxycholesterol
SMP0000314	PW_C000397	Chenodeoxycholic acid
SMP0000314	PW_C000480	Cholic acid
SMP0000314	PW_C000089	Glycocholic acid
SMP0000314	PW_C000496	Chenodeoxycholic acid glycine conjugate
SMP0000314	PW_C000078	Glycine
SMP0000314	PW_C000759	Taurochenodesoxycholic acid
SMP0000314	PW_C000171	Taurine
SMP0000314	PW_C000988	Propionyl-CoA
SMP0000314	PW_C002709	Chenodeoxycholoyl-CoA
SMP0000314	PW_C007983	3 alpha,7 alpha,24-Trihydroxy-5beta-cholestanoyl-CoA
SMP0000314	PW_C000964	FAD
SMP0000314	PW_C002997	3a,7a-Dihydroxy-5b-cholest-24-enoyl-CoA
SMP0000314	PW_C001918	3'-AMP
SMP0000314	PW_C000170	Pyrophosphate
SMP0000314	PW_C001452	3a,7a-Dihydroxy-5b-cholestanoyl-CoA
SMP0000314	PW_C001099	Coenzyme A
SMP0000314	PW_C000414	Adenosine triphosphate
SMP0000314	PW_C000259	3alpha,7alpha-Dihydroxycoprostanic acid
SMP0000314	PW_C002996	3a,7a-Dihydroxy-5b-cholestan-26-al
SMP0000314	PW_C001799	Heme
SMP0000314	PW_C001420	Water
SMP0000314	PW_C007982	3 alpha,7 alpha,26-Trihydroxy-5beta-cholestane
SMP0000314	PW_C001065	Oxygen
SMP0000314	PW_C000146	NADPH
SMP0000314	PW_C001336	7a-Hydroxy-cholestene-3-one
SMP0000314	PW_C000143	NADP
SMP0000314	PW_C002995	3a,7a-Dihydroxy-5b-cholestane
SMP0000314	PW_C000721	NAD
SMP0000314	PW_C002994	7a-Hydroxy-5b-cholestan-3-one

蛋白质

SMPDB ID	蛋白质id	蛋白质的名字
SMP0000314	O95992	Cholesterol 25-hydroxylase
SMP0000314	O75881	25-hydroxycholesterol 7-alpha-hydroxylase
SMP0000314	Q9NYL5	24-hydroxycholesterol 7-alpha-hydroxylase
SMP0000314	Q9Y6A2	Cholesterol 24-hydroxylase
SMP0000314	P38571	Lysosomal acid lipase/cholesteryl ester hydrolase
SMP0000314	P22680	Cholesterol 7-alpha-monooxygenase
SMP0000314	Q9UNU6	7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase
SMP0000314	Q9H2F3	3 beta-hydroxysteroid dehydrogenase type 7
SMP0000314	Q14032	Bile acid-CoA:amino acid N-acyltransferase
SMP0000314	P22307	Non-specific lipid-transfer protein
SMP0000314	P51659	Peroxisomal multifunctional enzyme type 2
SMP0000314	Q99424	Peroxisomal acyl-coenzyme A oxidase 2
SMP0000314	Q9UHK6	Alpha-methylacyl-CoA racemase
SMP0000314	Q9Y2P5	Bile acyl-CoA synthetase
SMP0000314	Q02318	Sterol 26-hydroxylase, mitochondrial
SMP0000314	P51857	3-oxo-5-beta-steroid 4-dehydrogenase
SMP0000314	P17516	Aldo-keto reductase family 1 member C4