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

3,406 bases

No. of Exons

10

No. of isoforms

2

Protein Name

Steroid 21-hydroxylase

Molecular Mass

55887 Da

Amino Acid Count

494

Genomic Location

chr6:32,038,265-32,041,670

Gene Map Locus
6p21.33

Description

CYP21A2 is the gene coding for the 21-hydroxylase enzyme, which is responsible for the conversion of 17-hydroxyprogesterone to 11-deoxycorticsol. The functional gene, called CYP21 or CYP21B has 10 exons and codes for a protein with 494 amino acids (55.8KDa). A highly homologous pseudogene called CYP21P or CYP21A is also present, contiguous to the functional gene, rendering it easy for recombination events, and consequent mutations to occur.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
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>ATunisiaChr6:32038481PathogenicAdrenal 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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