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

Chromosomal Location of Human Ortholog: 15q23-q24

Cellular Component: mitochondrial crista; mitochondrion; mitochondrial matrix; perikaryon

Molecular Function: cholesterol monooxygenase (side-chain-cleaving) activity; iron ion binding; heme binding; cholesterol binding

Biological Process: response to alkaloid; steroid metabolic process; maternal process involved in pregnancy; dibenzo-p-dioxin metabolic process; response to insecticide; estrogen biosynthetic process; response to L-ascorbic acid; response to salt stress; response to vitamin E; Leydig cell differentiation; biphenyl metabolic process; response to gamma radiation; cerebellum development; response to corticosterone stimulus; response to drug; cholesterol metabolic process; progesterone biosynthetic process; fractalkine metabolic process; hippocampus development; phthalate metabolic process; mating behavior; vitamin D metabolic process; Schwann cell differentiation; response to genistein; response to hydrogen peroxide; xenobiotic metabolic process; C21-steroid hormone biosynthetic process; sterol metabolic process; granulosa cell differentiation; phenol metabolic process

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