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RNA cell line category: Group enriched (HDLM-2, Karpas-707)
Organ
Origin
Category
Expression
Alphabetical
Cell lines sorted after organ of phenotypic resemblance.
Cell lines sorted after biological source for establishment.
Cell lines sorted after the cell line category according to Cellosaurus.
Cell lines sorted on descending RNA expression.
Cell lines sorted alphabetically.
GENE INFORMATION
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]
GO:0005506 [iron ion binding] GO:0016705 [oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen] GO:0020037 [heme binding] GO:0055114 [oxidation-reduction process]
GO:0005506 [iron ion binding] GO:0016705 [oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen] GO:0020037 [heme binding] GO:0055114 [oxidation-reduction process]