UniProt Protein Function: | 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. |
UniProt Protein Details: | Protein type:Mitochondrial; Lipid Metabolism - C21-steroid hormone; Oxidoreductase; 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; cholesterol binding; heme 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; phthalate metabolic process; hippocampus development; 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 |
NCBI Summary: | 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] |
UniProt Code: | P05108 |
NCBI GenInfo Identifier: | 143811381 |
NCBI Gene ID: | 1583 |
NCBI Accession: | P05108.2 |
UniProt Secondary Accession: | P05108,Q15081, Q16805, Q8N1A7, A8K8D5, B3KPU8, G3XAD7 |
UniProt Related Accession: | P05108 |
Molecular Weight: | 521 |
NCBI Full Name: | Cholesterol side-chain cleavage enzyme, mitochondrial |
NCBI Synonym Full Names: | cytochrome P450, family 11, subfamily A, polypeptide 1 |
NCBI Official Symbol: | CYP11A1 |
NCBI Official Synonym Symbols: | CYP11A; CYPXIA1; P450SCC |
NCBI Protein Information: | cholesterol side-chain cleavage enzyme, mitochondrial; steroid 20-22-lyase; cytochrome P450 11A1; cytochrome P450(scc); cytochrome P450C11A1; cholesterol 20-22 desmolase; cholesterol monooxygenase (side-chain cleaving); cytochrome P450, subfamily XIA (cholesterol side chain cleavage) |
UniProt Protein Name: | Cholesterol side-chain cleavage enzyme, mitochondrial |
UniProt Synonym Protein Names: | CYPXIA1; Cholesterol desmolase; Cytochrome P450 11A1; Cytochrome P450(scc) |
Protein Family: | Cholesterol side-chain cleavage enzyme |
UniProt Gene Name: | CYP11A1 |
UniProt Entry Name: | CP11A_HUMAN |