Article
The common P450 oxidoreductase variant A503V is not a modifier gene for 21-hydroxylase deficiency.
The Journal of clinical endocrinology and metabolism - 1 Jul 2008
Gomes Larissa G, Huang Ningwu, Agrawal Vishal, Mendonça Berenice B, Bachega Tania A S S, Miller Walter L
Abstract excerpt
CONTEXT: 21-hydroxylase deficiency (21OHD) is a common genetic disorder caused by mutations in the CYP21A2 gene, which encodes the adrenal 21-hydroxylase, microsomal P450c21. CYP21A2 gene mutations generally correlate well with impaired P450c21 enzymatic activity and the clinical findings in 21OHD, but occasional discrepancies between genotype and phenotype suggest the effects of modifier genes. Mutations in P450...
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