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Gene : CYP21A2 Homo sapiens

Name  ? cytochrome P450 family 21 subfamily A member 2 Cytological Location  6p21.33
Brief Description  cytochrome P450 family 21 subfamily A member 2
Description  This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and hydroxylates steroids at the 21 position. Its activity is required for the synthesis of steroid hormones including cortisol and aldosterone. Mutations in this gene cause congenital adrenal hyperplasia. A related pseudogene is located near this gene; gene conversion events involving the functional gene and the pseudogene are thought to account for many cases of steroid 21-hydroxylase deficiency. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
  • synonyms:
  • CAH1,
  • X58906,
  • HGNC:2600,
  • CA21H,
  • NM_000500,
  • CYP21A2,
  • CYP21,
  • cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2,
  • P450c21B,
  • CAH1,
  • CPS1,
  • CA21H,
  • uc021zxa.2,
  • CYP21,
  • CYP21B,
  • cytochrome P450, family 21, subfamily A, polypeptide 2,
  • P450c21B,
  • CYP21B,
  • Steroid 21-monooxygenase,
  • OTTHUMG00000031069,
  • CPS1
  • identifiers:
  • 1589,
  • ENSG00000231852,
  • CYP21A2

Genome feature

Region: gene ? Length: 3230  
Location: 6:32038415-32041644 Cyto location: 6p21.33


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Disease

1 Diseases

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42795 SNPs

5 Cross References

17 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results