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Cholesterol side-chain cleavage enzyme

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Cytochrome P450, family 11, subfamily A, polypeptide 1
Identifiers
Symbol(s) CYP11A1; CYP11A; P450SCC
External IDs OMIM: 118485 MGI88582 Homologene37347
EC number 1.14.15.6
RNA expression pattern

250px

More reference expression data

Orthologs
Human Mouse Entrez 1583 13070 Ensembl ENSG00000140459 ENSMUSG00000032323 Uniprot P05108 Q6NV84 Refseq NM_000781 (mRNA)
NP_000772 (protein)
XM_976231 (mRNA)
XP_981325 (protein)
Location Chr 15: 72.42 - 72.45 Mb Chr 9: 57.81 - 57.83 Mb
Pubmed search [1] [2]

Cytochrome P450, family 11, subfamily A, polypeptide 1, also known as CYP11A1, is a human gene.[1]

P450 scc (or 20,22-Desmolase) is an enzyme associated with the conversion of cholesterol to pregnenolone. The terminology "Desmolase" is becoming outdated and the enzyme is now more commonly referred to as P450scc.

The "scc" refers to side chain cleavage.

Steroid hormone synthesisEdit

Steroidogenesis

Steroidogenesis, showing cholesterol side-chain cleavage enzyme at top.

DHEA1

Steroid hormone synthesis

PathologyEdit

A deficiency can lead to lipoid congenital adrenal hyperplasia. However, this is very rare.

See alsoEdit

ReferencesEdit

Further readingEdit


  • Helmberg A (1993). Twin genes and endocrine disease: CYP21 and CYP11B genes.. Acta Endocrinol. 129 (2): 97-108.
  • Papadopoulos V, Amri H, Boujrad N, et al. (1997). Peripheral benzodiazepine receptor in cholesterol transport and steroidogenesis.. Steroids 62 (1): 21-8.
  • Stocco DM (2000). Intramitochondrial cholesterol transfer.. Biochim. Biophys. Acta 1486 (1): 184-97.
  • Kristensen VN, Kure EH, Erikstein B, et al. (2001). Genetic susceptibility and environmental estrogen-like compounds.. Mutat. Res. 482 (1-2): 77-82.
  • Strauss JF (2004). Some new thoughts on the pathophysiology and genetics of polycystic ovary syndrome.. Ann. N. Y. Acad. Sci. 997: 42-8.
  • Guo IC, Shih MC, Lan HC, et al. (2007). Transcriptional regulation of human CYP11A1 in gonads and adrenals.. J. Biomed. Sci. 14 (4): 509-15.
  • Wada A, Waterman MR (1992). Identification by site-directed mutagenesis of two lysine residues in cholesterol side chain cleavage cytochrome P450 that are essential for adrenodoxin binding.. J. Biol. Chem. 267 (32): 22877-82.
  • Hu MC, Guo IC, Lin JH, Chung BC (1991). 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 ( Pt 3): 813-7.
  • Sparkes RS, Klisak I, Miller WL (1991). Regional mapping of genes encoding human steroidogenic enzymes: P450scc to 15q23-q24, adrenodoxin to 11q22; adrenodoxin reductase to 17q24-q25; and P450c17 to 10q24-q25.. DNA Cell Biol. 10 (5): 359-65.
  • Coghlan VM, Vickery LE (1991). Site-specific mutations in human ferredoxin that affect binding to ferredoxin reductase and cytochrome P450scc.. J. Biol. Chem. 266 (28): 18606-12.
  • Matteson KJ, Chung BC, Urdea MS, Miller WL (1986). Study of cholesterol side-chain cleavage (20,22 desmolase) deficiency causing congenital lipoid adrenal hyperplasia using bovine-sequence P450scc oligodeoxyribonucleotide probes.. Endocrinology 118 (4): 1296-305.
  • Chung BC, Matteson KJ, Voutilainen R, et al. (1987). 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 (23): 8962-6.
  • Morohashi K, Sogawa K, Omura T, Fujii-Kuriyama Y (1987). Gene structure of human cytochrome P-450(SCC), cholesterol desmolase.. J. Biochem. 101 (4): 879-87.
  • Maruyama K, Sugano S (1994). Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.. Gene 138 (1-2): 171-4.
  • Gharani N, Waterworth DM, Batty S, et al. (1997). Association of the steroid synthesis gene CYP11a with polycystic ovary syndrome and hyperandrogenism.. Hum. Mol. Genet. 6 (3): 397-402.
  • Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library.. Gene 200 (1-2): 149-56.
  • Hukkanen J, Mäntylä M, Kangas L, et al. (1998). Expression of cytochrome P450 genes encoding enzymes active in the metabolism of tamoxifen in human uterine endometrium.. Pharmacol. Toxicol. 82 (2): 93-7.
  • Zhou Z, Shackleton CH, Pahwa S, et al. (1998). Prominent sex steroid metabolism in human lymphocytes.. Mol. Cell. Endocrinol. 138 (1-2): 61-9.




Additional imagesEdit

External linksEdit


Template:Steroid hydroxylases

  1. REDIRECT Template:Dioxygenases

Template:Multienzyme complexes

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