Cytochrome P450 11A1 (CYP11A1)

CYP11A; P450SCC; Cholesterol desmolase; Cholesterol Side Chain Cleavage Enzyme; Cytochrome P450 Family 11 Subfamily A Polypeptide 1

SPN	T239
HGNC	2590
MGI	88582
PubMed	21520051
RGD	69325
UniProt	P05108
Wiki	CYP11A1

Cytochrome P450, family 11, subfamily A, polypeptide 1 (P45011a1), often referred to as P450scc is a mitochondrial enzyme associated with the conversion of cholesterol to pregnenolone. The gene name is CYP11A1. The term "desmolase" is becoming outdated and the enzyme is now commonly referred to as P450scc, where "scc" refers to side chain cleavage. The protein is a member of the cytochrome family of enzymes. The protein resides on the inner mitochondrial membrane, facing the interior (matrix). The presence of this enzyme defines if a cell is steroidogenic. Consequently, P450scc is found in all steroid-producing cell types such as theca cells and luteal cells in the ovary, Leydig cells in the testis and cell types in the adrenal cortex.

Reference

"Human cholesterol side-chain cleavage enzyme, P450scc: cDNA cloning, assignment of the gene to chromosome 15, and expression in the placenta."
Proc. Natl. Acad. Sci. U.S.A. 83:8962-8966(1986) [PubMed] [Europe PMC] [Abstract]

"Gene structure of human cytochrome P-450(SCC), cholesterol desmolase."
J. Biochem. 101:879-887(1987) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"Analysis of the DNA sequence and duplication history of human chromosome 15."
Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Regulated expression of cytochrome P-450scc (cholesterol-side-chain cleavage enzyme) in cultured cell lines detected by antibody against bacterially expressed human protein."
Biochem. J. 274:813-817(1991) [PubMed] [Europe PMC] [Abstract]

"Study of cholesterol side-chain cleavage (20,22 desmolase) deficiency causing congenital lipoid adrenal hyperplasia using bovine-sequence P450scc oligodeoxyribonucleotide probes."
Endocrinology 118:1296-1305(1986) [PubMed] [Europe PMC] [Abstract]

"Structural basis for pregnenolone biosynthesis by the mitochondrial monooxygenase system."
Proc. Natl. Acad. Sci. U.S.A. 108:10139-10143(2011) [PubMed] [Europe PMC] [Abstract]

"Characterization of single-nucleotide polymorphisms in coding regions of human genes."
Nat. Genet. 22:231-238(1999) [PubMed] [Europe PMC] [Abstract]

Erratum
Nat. Genet. 23:373-373(1999)

"Heterozygous mutation in the cholesterol side chain cleavage enzyme (P450scc) gene in a patient with 46,XY sex reversal and adrenal insufficiency."
J. Clin. Endocrinol. Metab. 86:3820-3825(2001) [PubMed] [Europe PMC] [Abstract]

"Compound heterozygous mutations in the cholesterol side-chain cleavage enzyme gene (CYP11A) cause congenital adrenal insufficiency in humans."
J. Clin. Endocrinol. Metab. 87:3808-3813(2002) [PubMed] [Europe PMC] [Abstract]

"Homozygous mutation of P450 side-chain cleavage enzyme gene (CYP11A1) in 46, XY patient with adrenal insufficiency, complete sex reversal, and agenesis of corpus callosum."
J. Clin. Endocrinol. Metab. 91:2821-2826(2006) [PubMed] [Europe PMC] [Abstract]

"Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc."
J. Clin. Endocrinol. Metab. 93:696-702(2008) [PubMed] [Europe PMC] [Abstract]

"A novel homozygous mutation in CYP11A1 gene is associated with late-onset adrenal insufficiency and hypospadias in a 46,XY patient."
J. Clin. Endocrinol. Metab. 94:936-939(2009) [PubMed] [Europe PMC] [Abstract]