P450 Oxidoreductase deficiency: Analysis of mutations and polymorphisms.

doi:10.1016/j.jsbmb.2016.04.003

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Article

P450 Oxidoreductase deficiency: Analysis of mutations and polymorphisms.

The Journal of steroid biochemistry and molecular biology - 1 Jan 2017

Burkhard Fabian Z, Parween Shaheena, Udhane Sameer S, Flück Christa E, Pandey Amit V

Abstract excerpt

Cytochrome P450 oxidoreductase (POR) is required for metabolic reactions of steroid and drug metabolizing cytochrome P450 proteins located in endoplasmic reticulum. Mutations in POR cause a complex set of disorders resembling combined deficiencies of multiple steroid metabolizing enzymes. The P450 oxidoreductase deficiency (PORD) was first reported in patients with symptoms of defects in steroidogenic cytochrome...

Topics

Alleles
Animals
Binding Sites
DNA Mutational Analysis
Endoplasmic Reticulum
Female
Founder Effect
Genetic Variation
Humans
Imaging, Three-Dimensional
Japan

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Microsomes

Molecular Dynamics Simulation

Mutation

NADPH-Ferrihemoprotein Reductase

Oxidation-Reduction

Polymorphism, Genetic

Source

Open in PubMed

Identifiers

PMID: 27068427
DOI: 10.1016/j.jsbmb.2016.04.003

Genes

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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