Title : Steroid 21-hydroxylase (P450c21) naturally occurring mutants I172N, V281L and I236n/V237E/M239K exert a dominant negative effect on enzymatic activity when co-expressed with the wild-type protein.

Pub. Date : 2003 Sep

PMID : 14513879






1 Functional Relationships(s)
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1 Steroid 21-hydroxylase deficiency is the major cause of congenital adrenal hyperplasia, an autosomic recessive disorder that affects the synthesis of aldosterone and cortisol. Hydrocortisone cytochrome P450 family 21 subfamily A member 2 Homo sapiens