The common P450 oxidoreductase variant A503V is not a modifier gene for 21-hydroxylase deficiency.

ABSTRACT:

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 oxidoreductase (POR), the protein that transfers electrons from reduced nicotinamide adenine dinucleotide phosphate to all microsomal P450s, can ameliorate the 21OHD phenotype and, therefore, could be a modifier gene.

Objectives

We sought to identify POR variants in patients with 21OHD having discordant phenotype and genotype, and to evaluate their effect on 21-hydro

SUBMITTER: Gomes LG 

PROVIDER: S-EPMC2453048 | biostudies-literature | 2008 Jul

REPOSITORIES: biostudies-literature