CYP21A2

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]

Description

Cytochrome P450 family 21 subfamily A member 2

Tissue specificity

Tissue enriched (adrenal gland)

Predicted location

Intracellular

Protein family

Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Plasma proteins
Potential drug targets
Predicted intracellular proteins
Protein evidence (Kim et al 2014)

Chromosome

6 (32038327 - 32041644)

Ensembl ID

ENSG00000231852  (ver. 103.38)

Orthologs

Mouse Cyp21a1: ENSMUSG00000024365

UniProt

P08686

neXtProt

NX_P08686

Human splice variants
Mouse splice variants

Protein structure