This MedLibrary.org supplementary page on 21-Hydroxylase is provided directly from the open source Wikipedia as a service to our readers. Please see the note below on authorship of this content, as well as the Wikipedia usage guidelines. To search for other content from our encyclopedia supplement, please use the form below:
Related Sponsors
|
Cytochrome P450, family 21, subfamily A, polypeptide 2
|
||||||||||||||
| Identifiers | ||||||||||||||
| Symbols | CYP21A2; CPS1; CA21H; CAH1; CYP21; CYP21B; MGC150536; MGC150537; P450c21B | |||||||||||||
| External IDs | OMIM: 201910 MGI: 88591 HomoloGene: 68063 | |||||||||||||
|
||||||||||||||
| RNA expression pattern | ||||||||||||||
|
|
||||||||||||||
| Orthologs | ||||||||||||||
| Human | Mouse | |||||||||||||
| Entrez | 1589 | 13079 | ||||||||||||
| Ensembl | ENSG00000168482 | ENSMUSG00000024365 | ||||||||||||
| Uniprot | P08686 | A0JP50 | ||||||||||||
| Refseq | NM_000500 (mRNA) NP_000491 (protein) |
NM_009995 (mRNA) NP_034125 (protein) |
||||||||||||
| Location | Chr c6_COX: 32.1 - 32.1 Mb | Chr 17: 34.41 - 34.41 Mb | ||||||||||||
| Pubmed search | [1] | [2] | ||||||||||||
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.
Contents |
Reaction
It catalyses the hydroxylation of the carbon atom 21 in steroids (adding an "–OH"), which is necessary with the formation of these hormones.
 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:. 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)
- MeSH Steroid+21-Hydroxylase
|
||||||||||||||||||||||||||
|
||||||||||||||
|
||||||||||||||||||||
Wikipedia content modification information:
- This page was last modified on 21 August 2008, at 20:03.
Wikipedia Authorship and Review
Wikipedia content provided here is not reviewed directly by MedLibrary.org. Wikipedia content is authored by an open community of volunteers and is not produced by or in any way affiliated with MedLibrary.org.
Wikipedia Usage Guidelines
This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article on "21-Hydroxylase".
The URL for this specific entry is:
All Wikipedia text is available under the terms of the GNU Free Documentation License. (See Copyrights for details). Wikipedia® is a registered trademark of the Wikimedia Foundation, Inc.