4y8w: Difference between revisions

[https://www.uniprot.org/uniprot/CP21A_HUMAN CP21A_HUMAN] Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form;NON RARE IN EUROPE: Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency;Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form. The disease is caused by variants affecting the gene represented in this entry.

[https://www.uniprot.org/uniprot/CP21A_HUMAN CP21A_HUMAN] 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:25855791, PubMed:10602386, PubMed:16984992, PubMed:22014889, 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).<ref>PMID:10602386</ref> <ref>PMID:16984992</ref> <ref>PMID:22014889</ref> <ref>PMID:25855791</ref> <ref>PMID:27721825</ref>