Title : Functional and structural consequences of a novel point mutation in the CYP21A2 gene causing congenital adrenal hyperplasia: potential relevance of helix C for P450 oxidoreductase-21-hydroxylase interaction.

Pub. Date : 2008 Jul

PMID : 18445671






1 Functional Relationships(s)
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1 RESULTS: In vitro expression analysis of the mutant K121Q enzyme in transiently transfected COS-7 cells revealed reduced CYP21 activity of 14.0 +/- 5% for the conversion of 17-hydroxyprogesterone and 19.5 +/- 4% for the conversion of progesterone. 17-alpha-Hydroxyprogesterone cytochrome P450 family 21 subfamily A member 2 Homo sapiens