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...
Topics
- Adrenal Hyperplasia, Congenital
- Crystallography, X-Ray
- Humans
- Mutation
- Progesterone
- Protein Folding
- Steroid 21-Hydroxylase
- Structure-Activity Relationship