Article
Functional analysis of human cytochrome P450 21A2 variants involved in congenital adrenal hyperplasia.
The Journal of biological chemistry - 30 Jun 2017
Wang Chunxue, Pallan Pradeep S, Zhang Wei, Lei Li, Yoshimoto Francis K, Waterman Michael R, Egli Martin, Guengerich F Peter
Abstract excerpt
Cytochrome P450 (P450, CYP) 21A2 is the major steroid 21-hydroxylase, converting progesterone to 11-deoxycorticosterone and 17α-hydroxyprogesterone (17α-OH-progesterone) to 11-deoxycortisol. More than 100 CYP21A2 variants give rise to congenital adrenal hyperplasia (CAH). We previously reported a structure of WT human P450 21A2 with bound progesterone and now present a structure bound to the other substrate...
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