| Primary Identifier | IPR033283 | Type | Family |
| Short Name | CYP11A1 |
| description | CYP11A1 is involved in the C21-steroid hormone metabolism. It catalyses the side-chain cleavage reaction of cholesterol to pregnenolone []. Mutations in the CYP11A1 gene cause adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR), a rare disorder that can present as acute adrenal insufficiency in infancy or childhood [, ]. |
