Article
Research Resource: Correlating Human Cytochrome P450 21A2 Crystal Structure and Phenotypes of Mutations in Congenital Adrenal Hyperplasia.
Molecular endocrinology (Baltimore, Md.) - 1 Sept 2015
Pallan Pradeep S, Lei Li, Wang Chunxue, Waterman Michael R, Guengerich F Peter, Egli Martin
Abstract excerpt
Cytochrome P450 21A2 is a key player in steroid 21-hydroxylation and converts progesterone to 11-deoxycorticosterone and 17α-hydroxy progesterone to 11-deoxycortisol. More than 100 mutations in P450 21A2 have been established in patients thus far; these account for the vast majority of occurrences of congenital adrenal hyperplasia (CAH), which is among the most common heritable metabolic diseases in humans. CAH...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.