Congenital Bile Acid Synthesis Defect Type III
Metabolites
3alpha,7alpha,12alpha-Trihydroxy-5beta-cholestan-26-al
Formula: C27H46O4 (434.3395916)
CAS ID: 3836-01-9
3alpha,7alpha,12alpha-Trihydroxy-5beta-cholestane
Formula: C27H48O3 (420.36032579999994)
CAS ID: 547-96-6
3alpha,7alpha,12alpha-Trihydroxy-5beta-cholestanoate
Formula: C27H46O5 (450.3345066)
CAS ID: 547-98-8
3alpha,7alpha,12alpha,26-Tetrahydroxy-5beta-cholestane
Formula: C27H48O4 (436.3552408)
CAS ID: 862-53-3
3alpha,7alpha,26-Trihydroxy-5beta-cholestane
Formula: C27H48O3 (420.36032579999994)
CAS ID: 15313-69-6
Enzyme
| EC Number | name | full name | note |
|---|---|---|---|
| 1.1.1.- | |||
| 1.1.1.181 | cholest-5-ene-3beta,7alpha-diol 3beta-dehydrogenase | cholest-5-ene-3beta,7alpha-diol:NAD+ 3-oxidoreductase | |
| 1.1.1.209 | 3(or 17)alpha-hydroxysteroid dehydrogenase | 3(or 17)alpha-hydroxysteroid:NAD(P)+ oxidoreductase | |
| 1.1.1.210 | 3beta(or 20alpha)-hydroxysteroid dehydrogenase | 3beta(or 20alpha)-hydroxysteroid:NADP+ oxidoreductase | |
| 1.1.1.225 | chlordecone reductase | chlordecone-alcohol:NADP+ 2-oxidoreductase | |
| 1.1.1.357 | 3alpha-hydroxysteroid 3-dehydrogenase | 3alpha-hydroxysteroid:NAD(P)+ 3-oxidoreductase | |
| 1.1.1.51 | 3(or 17)beta-hydroxysteroid dehydrogenase | 3(or 17)beta-hydroxysteroid:NAD(P)+ oxidoreductase | |
| 1.1.1.53 | 3alpha(or 20beta)-hydroxysteroid dehydrogenase | 3alpha(or 20beta)-hydroxysteroid:NAD+ oxidoreductase | |
| 1.1.1.62 | 17beta-estradiol 17-dehydrogenase | 17beta-estradiol:NAD(P)+ 17-oxidoreductase | |
| 1.14.14.139 | 5beta-cholestane-3alpha,7alpha-diol 12alpha-hydroxylase | 5beta-cholestane-3alpha,7alpha-diol,[reduced NADPH-hemoprotein reductase]:oxygen oxidoreductase (12alpha-hydroxylating) | |
| 1.14.14.23 | cholesterol 7alpha-monooxygenase | cholesterol,NADPH-hemoprotein reductase:oxygen oxidoreductase (7alpha-hydroxylating) | |
| 1.14.14.25 | cholesterol 24-hydroxylase | cholesterol,NADPH-hemoprotein reductase:oxygen oxidoreductase (24-hydroxylating) | |
| 1.14.14.26 | 24-hydroxycholesterol 7alpha-hydroxylase | (24R)-cholest-5-ene-3beta,24-diol,NADPH:oxygen oxidoreductase (7alpha-hydroxylating) | |
| 1.14.14.29 | 25/26-hydroxycholesterol 7alpha-hydroxylase | cholest-5-ene-3beta,25/26-diol,[NADPH-hemoprotein reductase]:oxygen oxidoreductase (7alpha-hydroxylating) | |
| 1.14.15.15 | cholestanetriol 26-monooxygenase | 5beta-cholestane-3alpha,7alpha,12alpha-triol,adrenodoxin:oxygen oxidoreductase (26-hydroxylating) | |
| 1.14.99.38 | cholesterol 25-monooxygenase | cholesterol,hydrogen-donor:oxygen oxidoreductase (25-hydroxylating) | |
| 1.17.99.3 | 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase | (25R)-3alpha,7alpha,12alpha-trihydroxy-5beta-cholestan-26-oyl-CoA:acceptor 24-oxidoreductase (24R-hydroxylating) | |
| 1.3.1.3 | DELTA4-3-oxosteroid 5beta-reductase | 5beta-cholestan-3-one:NADP+ 4,5-oxidoreductase | |
| 2.3.1.155 | acetyl-CoA C-myristoyltransferase | myristoyl-CoA:acetyl-CoA C-myristoyltransferase | |
| 2.3.1.16 | acetyl-CoA C-acyltransferase | acyl-CoA:acetyl-CoA C-acyltransferase | |
| 2.3.1.176 | propanoyl-CoA C-acyltransferase | 3alpha,7alpha,12alpha-trihydroxy-5beta-cholanoyl-CoA:propanoyl-CoA C-acyltransferase | |
| 2.3.1.65 | bile acid-CoA:amino acid N-acyltransferase | choloyl-CoA:glycine N-choloyltransferase | |
| 3.1.1.13 | sterol esterase | steryl-ester acylhydrolase | |
| 3.1.2.2 | palmitoyl-CoA hydrolase | palmitoyl-CoA hydrolase | |
| 3.1.2.27 | choloyl-CoA hydrolase | choloyl-CoA hydrolase | |
| 4.2.1.107 | 3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase | (24R,25R)-3alpha,7alpha,12alpha,24-tetrahydroxy-5beta-cholestanoyl-CoA hydro-lyase [(24E)-3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA-forming] | |
| 4.2.1.119 | enoyl-CoA hydratase 2 | (3R)-3-hydroxyacyl-CoA hydro-lyase | |
| 5.1.99.4 | alpha-methylacyl-CoA racemase | 2-Methylacyl-CoA 2-epimerase | |
| 6.2.1.3 | long-chain-fatty-acid-CoA ligase | long-chain fatty acid:CoA ligase (AMP-forming) | |
| 6.2.1.7 | cholate-CoA ligase | cholate:CoA ligase (AMP-forming) |
Proteins
| Protein ID | name | full name |
|---|