CYP21A2

GENE INFORMATION

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Gene name

CYP21A2 (HGNC Symbol)

Synonyms

CA21H, CAH1, CPS1, CYP21, CYP21B, P450c21B

Description

Cytochrome P450, family 21, subfamily A, polypeptide 2 (HGNC Symbol)

Entrez gene summary

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]

Chromosome

6

Cytoband

p21.33

Chromosome location (bp)

32038265 - 32041670

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000231852 (version 78.38)

Entrez gene

1589

UniProt

P08686 (UniProt - Evidence at protein level)

neXtProt

NX_P08686

Antibodypedia

CYP21A2 antibodies
 

PROTEIN VIEW

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CYP21A2-001
 
CYP21A2-002
 
CYP21A2-013
 
CYP21A2-015
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

CYP21A2-001 ENSP00000415043
ENST00000435122
P08686
Show all »
Show » Show » 465 52.6 Yes 0
CYP21A2-002 ENSP00000408860
ENST00000418967
Q16874
Show all »
Show » Show » 495 56 Yes 0
CYP21A2-013 ENSP00000418561
ENST00000471671
E7EN87
Show all »
Show » Show » 190 21.7 Yes 0
CYP21A2-015 ENSP00000419572
ENST00000478281
E7EVC0
Show all »
Show » Show » 186 21.1 Yes 0