21-Hydroxylase

Cytochrome P450, family 21, subfamily A, polypeptide 2
Identifiers
Symbols	CYP21A2 ; CPS1; CA21H; CAH1; CYP21; CYP21B; MGC150536; MGC150537; P450c21B
External IDs	Template:OMIM5 Template:MGI HomoloGene: 68063
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO
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.

• 

  Progesterone

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  11-deoxycorticosterone

• 

  Steroid numbering - #21 is near center top

Pathway

Corticosteroid biosynthetic pathway in rat

Steroidogenesis, showing both reactions of 21-Hydroxylase at center top.

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.

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.CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)

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)