Lysosomal Acid Lipase Deficiency (Wolman Disease)
Metabolites
4,4-Dimethyl-5alpha-cholesta-8,14,24-trien-3beta-ol
Formula: C29H46O (410.3548466)
CAS ID: 64284-64-6
Enzyme
| EC Number | name | full name | note |
|---|---|---|---|
| 1.1.1.- | |||
| 1.14.19.20 | DELTA7-sterol 5(6)-desaturase | DELTA7-sterol,ferrocytochrome b5:oxygen oxidoreductase 5,6-dehydrogenating | |
| 2.3.1.26 | sterol O-acyltransferase | long-chain acyl-CoA:sterol O-acyltransferase | |
| 2.3.3.10 | hydroxymethylglutaryl-CoA synthase | acetyl-CoA:acetoacetyl-CoA C-acetyltransferase (thioester-hydrolysing, carboxymethyl-forming) | |
| 2.7.4.2 | phosphomevalonate kinase | ATP:(R)-5-phosphomevalonate phosphotransferase | |
| 3.1.1.13 | sterol esterase | steryl-ester acylhydrolase | |
| 4.1.1.35 | UDP-glucuronate decarboxylase | UDP-D-glucuronate carboxy-lyase (UDP-D-xylose-forming) |
Proteins
| Protein ID | name | full name |
|---|