Cholesterol Side-Chain Cleavage Enzyme, Mitochondrial (CYP11A1) ELISA Kit for Mouse

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

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

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

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