Ontology highlight
ABSTRACT:
SUBMITTER: Pallan PS
PROVIDER: S-EPMC4552440 | biostudies-literature | 2015 Sep
REPOSITORIES: biostudies-literature
Pallan Pradeep S PS Lei Li L Wang Chunxue C Waterman Michael R MR Guengerich F Peter FP Egli Martin M
Molecular endocrinology (Baltimore, Md.) 20150714 9
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 phenotypes range from the most severe, salt-wasting (SW), to the simple virilizing (S ...[more]