21-Hydroxylase: Difference between revisions
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Revision as of 16:54, 25 June 2009
Cytochrome P450, family 21, subfamily A, polypeptide 2 | |||||||||||
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Identifiers | |||||||||||
Symbols | CYP21A2 ; CPS1; CA21H; CAH1; CYP21; CYP21B; MGC150536; MGC150537; P450c21B | ||||||||||
External IDs | Template:OMIM5 Template:MGI HomoloGene: 68063 | ||||||||||
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RNA expression pattern | |||||||||||
More reference expression data | |||||||||||
Orthologs | |||||||||||
Template:GNF Ortholog box | |||||||||||
Species | Human | Mouse | |||||||||
Entrez | n/a | n/a | |||||||||
Ensembl | n/a | n/a | |||||||||
UniProt | n/a | n/a | |||||||||
RefSeq (mRNA) | n/a | n/a | |||||||||
RefSeq (protein) | n/a | n/a | |||||||||
Location (UCSC) | n/a | n/a | |||||||||
PubMed search | n/a | n/a |
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Overview
Steroid 21-hydroxylase (or steroid 21-monooxygenase or 21α-Hydroxylase; EC 1.14.99.10) is a cytochrome P450 enzyme which is involved with the biosynthesis of the steroid hormones aldosterone and cortisol.
The CAS number is 9029-68-9.
21-Hydroxylase is encoded by the gene CYP21B.
Reaction
It catalyses the hydroxylation of the carbon atom 21 in steroids (adding an "–OH"), which is necessary with the formation of these hormones.
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Steroid numbering - #21 is near center top
Pathway
Clinical significance
A defect within the CYP21B gene causes a disturbance of the development of the enzyme, which leads to congenital adrenal hyperplasia due to 21-hydroxylase deficiency. A related pseudogene is located near this gene; gene conversion events involving the functional gene and the pseudogene are thought account for many cases of steroid 21-hydroxylase deficiency.[1]
References
Further reading
- White PC, Tusie-Luna MT, New MI, Speiser PW (1994). "Mutations in steroid 21-hydroxylase (CYP21)". Hum. Mutat. 3 (4): 373–8. doi:10.1002/humu.1380030408. PMID 8081391.
- Helmberg A (1993). "Twin genes and endocrine disease: CYP21 and CYP11B genes". Acta Endocrinol. 129 (2): 97–108. PMID 8372604.
- de-Araujo M, Sanches MR, Suzuki LA; et al. (1996). "Molecular analysis of CYP21 and C4 genes in Brazilian families with the classical form of steroid 21-hydroxylase deficiency". Braz. J. Med. Biol. Res. 29 (1): 1–13. PMID 8731325.
- Yu CY (1999). "Molecular genetics of the human MHC complement gene cluster". Exp. Clin. Immunogenet. 15 (4): 213–30. PMID 10072631.
- Forest MG, Tardy V, Nicolino M; et al. (2005). "21-Hydroxylase deficiency: an exemplary model of the contribution of molecular biology in the understanding and management of the disease". Ann. Endocrinol. (Paris). 66 (3): 225–32. PMID 15988383.
External links
- Synthesis of Desoxycorticosterone from Progesterone through 21-Hydroxylase (Image)
- Steroid+21-Hydroxylase at the US National Library of Medicine Medical Subject Headings (MeSH)