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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 The terminology "Desmolase" is becoming outdated and the enzyme is now more commonly referred to as P450scc.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.
Regulation
The action of P450scc is primarily regulated by two pituitary hormones: LH and ACTH. Both increase the action of P450scc.
P450scc is also inhibited by the drug aminoglutethimide to block the steroid pathway.
Steroid hormone synthesis
Steroid hormone synthesis
Pathology
A deficiency can lead to lipoid congenital adrenal hyperplasia. However, this is very rare.
See also
References
Further reading
- Helmberg A (1993). "Twin genes and endocrine disease: CYP21 and CYP11B genes.". Acta Endocrinol. 129 (2): 97–108. PMID 8372604.
- Papadopoulos V, Amri H, Boujrad N, et al. (1997). "Peripheral benzodiazepine receptor in cholesterol transport and steroidogenesis.". Steroids 62 (1): 21–8. PMID 9029710.
- Stocco DM (2000). "Intramitochondrial cholesterol transfer.". Biochim. Biophys. Acta 1486 (1): 184–97. PMID 10856721.
- Kristensen VN, Kure EH, Erikstein B, et al. (2001). "Genetic susceptibility and environmental estrogen-like compounds.". Mutat. Res. 482 (1-2): 77–82. PMID 11535251.
- Strauss JF (2004). "Some new thoughts on the pathophysiology and genetics of polycystic ovary syndrome.". Ann. N. Y. Acad. Sci. 997: 42–8. PMID 14644808.
- 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. doi:10.1007/s11373-007-9177-z. PMID 17594537.
- 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. PMID 1429635.
- 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. PMID 1849407.
- 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. PMID 1863359.
- 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. PMID 1917982.
- 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. PMID 2419119.
- 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. PMID 3024157.
- 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. PMID 3038854.
- 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. PMID 8125298.
- 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. PMID 9147642.
- 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. PMID 9373149.
- 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. PMID 9498238.
- Zhou Z, Shackleton CH, Pahwa S, et al. (1998). "Prominent sex steroid metabolism in human lymphocytes.". Mol. Cell. Endocrinol. 138 (1-2): 61–9. PMID 9685215.
Additional images
External links
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Cytochromes, oxygenases: cytochrome P450 (EC 1.14) |
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| CYP1 |
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| CYP2 |
A6, A7, A13, B6, C8, C9, C18, C19, D6, E1, F1, J2, R1, S1, U1, W1
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| CYP3 |
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| CYP4 |
A11, A22, B1, F2, F3, F8, F11, F12, F22, V2, X1, Z1
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| CYP5-20 |
CYP5 ( A1) - CYP7 ( A1, B1) - CYP8 ( A1, B1) - CYP11 ( A1, B1, B2) - CYP17 ( A1) - CYP19 ( A1) - CYP20 ( A1)
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| CYP21-51 |
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Mitochondrial enzymes and transporters |
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| Outer membrane |
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| Intermembrane space |
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| Inner membrane |
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| Matrix |
citric acid cycle ( Citrate synthase, Aconitase, Isocitrate dehydrogenase, Oxoglutarate dehydrogenase, Succinyl coenzyme A synthetase, Fumarase, Malate dehydrogenase)
anaplerotic reactions (Aspartate transaminase, Glutamate dehydrogenase, Pyruvate dehydrogenase complex)
urea cycle (Carbamoyl phosphate synthetase I, Ornithine transcarbamylase, N-Acetylglutamate synthase)
alcohol metabolism ( ALDH2)
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| Other/to be sorted |
Cholesterol side-chain cleavage enzyme
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| Mitochondrial DNA |
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