CYP11A1 Antibody – Rabbit Polyclonal

CYP11A1: Catalyzes the side-chain cleavage reaction of cholesterol to pregnenolone. Defects in CYP11A1 are the cause of adrenal insufficiency congenital with 46,XY sex reversal (AICSR). A rare disorder that can present as acute adrenal insufficiency in infancy or childhood. ACTH and plasma renin activity are elevated and adrenal steroids are inappropriately low or absent; the 46,XY patients have female external genitalia, sometimes with clitoromegaly. The phenotypic spectrum ranges from prematurity, complete underandrogenization, and severe early-onset adrenal failure to term birth with clitoromegaly and later-onset adrenal failure. Patients with congenital adrenal insufficiency do not manifest the massive adrenal enlargement typical of congenital lipoid adrenal hyperplasia. Belongs to the cytochrome P450 family.

Protein type: Oxidoreductase; Lipid Metabolism - C21-steroid hormone; EC 1.14.15.6; Mitochondrial

Cellular Component: mitochondrial crista; membrane; mitochondrion; mitochondrial inner membrane; perikaryon

Molecular Function: cholesterol monooxygenase (side-chain-cleaving) activity; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen; iron ion binding; metal ion binding; heme binding; cholesterol binding; oxidoreductase activity; monooxygenase activity

Biological Process: steroid metabolic process; cholesterol metabolic process; response to hydrogen peroxide; mating behavior; C21-steroid hormone biosynthetic process; lipid metabolic process; steroid biosynthetic process