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Details on Person UniProt:P08686 CYP21A2
Class:Id
ReferenceGeneProduct:52702
_chainChangeLog
chain:1-494 added on Sat February 7 2015;chain:1-494 for 52702 removed on Mon Feb 26 2024;chain:1-495 for 52702 added on Mon Feb 26 2024
_displayName
UniProt:P08686 CYP21A2
_timestamp
2025-02-21 18:55:24
chain
chain:1-495
checksum
CE5C4EE9D3A0851C
comment
FUNCTION A cytochrome P450 monooxygenase that plays a major role in adrenal steroidogenesis. Catalyzes the hydroxylation at C-21 of progesterone and 17alpha-hydroxyprogesterone to respectively form 11-deoxycorticosterone and 11-deoxycortisol, intermediate metabolites in the biosynthetic pathway of mineralocorticoids and glucocorticoids (PubMed:10602386, PubMed:16984992, PubMed:22014889, PubMed:25855791, PubMed:27721825). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase) (PubMed:25855791).CATALYTIC ACTIVITY progesterone + reduced [NADPH--hemoprotein reductase] + O2 = 21-hydroxyprogesterone + oxidized [NADPH--hemoprotein reductase] + H2O + H(+)CATALYTIC ACTIVITY 17alpha-hydroxyprogesterone + reduced [NADPH--hemoprotein reductase] + O2 = 11-deoxycortisol + oxidized [NADPH--hemoprotein reductase] + H2O + H(+)COFACTOR The leucine-rich hydrophobic amino acid N-terminal region probably helps to anchor the protein to the microsomal membrane.POLYMORPHISM Several non deleterious alleles have been described including CYP21A2*1A, CYP21A2*1B, CYP21A2*2, CYP21A2*3, CYP21A2*4, CYP21A2*5 and CYP21A2*6. Deleterious alleles are mostly generated by recombinations between CYP21A2 and the pseudogene CYP21A1P through gene conversion. This process consists of recombination events that either delete CYP21A2 or transfer deleterious mutations from CYP21A1P to CYP21A2.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the cytochrome P450 family.
