Cytochrome P450, Family 21, Subfamily A, Polypeptide 2

Alternative Names

  • CYP21A2
  • Cytochrome P450, Subfamily XXIA, Polypeptide 2
  • Cytochrome P450, Subfamily XXI
  • CYP21
  • Steroid Cytochrome P450 21-Hydroxylase
  • P450C21
  • 21-Hydroxylase B
  • CYP21B
  • CA21H
  • Cytochrome P450, Subfamily XXIA, Polypeptide 1 Pseudogene
  • CYP21A1P
  • CYP21P
  • CYP21A
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OMIM Number

613815

NCBI Gene ID

1589

Uniprot ID

P08686

Length

3,230 bases

No. of Exons

10

No. of isoforms

2

Protein Name

Steroid 21-hydroxylase

Molecular Mass

55887 Da

Amino Acid Count

494

Genomic Location

chr6:32,038,414-32,041,643

Gene Map Locus
6p21.33

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_000500.9:c.1-?_1488+?delUnited Arab EmiratesAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyNM_000500.9:c.1-?_1488+?del
NM_001128590.3:c.203-13C>GLebanon; Palestine; Tu...Chr6:32039081PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyNG_045215.1:g.1310C>G ; NM_001128590.3:c.203-13C>G646712155
NM_001128590.3:c.242_249delGAGACTACLebanonChr6:32039133-32039140PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyNG_045215.1:g.1362_1369delGAGACTAC ; NM_001128590.3:c.242_249delGAGACTAC; NP_001122062.3:p.Gly81Valfs38790651012164
NM_001128590.3:c.428T>AEgypt; Lebanon; Tunisi...Chr6:32039426PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyNG_045215.1:g.1655T>A; NM_001128590.3:c.428T>A; NP_001122062.3:p.Ile143Asn647512150
NM_001128590.3:c.59G>ATunisiaChr6:32038481Adrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyNG_055451.1:g.5157G>A; NM_001128590.3:c.59G>A; NP_001122062.3:p.Trp20Ter72552743
NM_001128590.3:c.620T>ALebanonChr6: 32039807PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyNG_045215.1:g.2036T>A ; NM_001128590.3:c.620T>A; NP_001122062.3:p.Ile207Asn111647200242761
NM_001128590.3:c.623T>ALebanonChr6:32039810PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyNG_045215.1:g.2039T>A ; NM_001128590.3:c.623T>A; NP_001122062.3:p.Val208Glu1253038012173
NM_001128590.3:c.629T>ALebanonChr6:32039816PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyNG_045215.1:g.2045T>A; NM_001128590.3:c.629T>A; NP_001122062.3:p.Met210Lys6476242688
NM_001128590.3:c.754G>TLebanonChr6:32040110PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyNG_045215.1:g.2339G>T; NM_001128590.3:c.754G>T; NP_001122062.3:p.Val252Leu647112151
NM_001128590.3:c.865C>TLebanon; Palestine; Tu...Chr6:32040421PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyNG_045215.1:g.2650C>T; NM_001128590.3:c.865C>T; NP_001122062.3:p.Gln289Ter775589812169
NM_001128590.3:c.92C>TTunisiaChr6:32038514Adrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyNG_055451.1:g.5190C>T; NM_001128590.3:c.92C>T; NP_001122062.3:p.Pro31Leu937825112153
NM_001128590.3:c.979C>TTunisiaChr6: 32040535PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyNG_045215.1:g.2764C>T; NM_001128590.3:c.979C>T; NP_001122062.3:p.Arg327Trp776940912152
NM_032470.3:c.*253G>ATunisiaChr6:32041096PathogenicAdrenal Hyperplasia, Congenital, due to 21-Hydroxylase DeficiencyNG_045215.1:g.3325C>T ; NM_032470.3:c.*253G>A; NP_001122062.3:p.Arg454Trp759736443
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