CYP11A1 Antibody – Rabbit Polyclonal

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and catalyzes the conversion of cholesterol to pregnenolone, the first and rate-limiting step in the synthesis of the steroid hormones. Two transcript variants encoding different isoforms have been found for this gene. The cellular location of the smaller isoform is unclear since it lacks the mitochondrial-targeting transit peptide. [provided by RefSeq, Jul 2008]

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; Oxidoreductase; Mitochondrial; Lipid Metabolism - C21-steroid hormone

Chromosomal Location of Human Ortholog: 15q23-q24

Cellular Component: mitochondrial inner membrane; mitochondrial matrix; mitochondrion

Molecular Function: cholesterol monooxygenase (side-chain-cleaving) activity; heme binding; 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; sterol metabolic process; vitamin D metabolic process

Disease: Adrenal Insufficiency, Congenital, With 46,xy Sex Reversal, Partial Or Complete