Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Endoplasmic Reticulum
Share to Founder Effect

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Imaging, Three-Dimensional

Share to Microsomes

Share to NADPH-Ferrihemoprotein Reductase

Share to Steroid 17-alpha-Hydroxylase

Share to Steroids

Share to Turkey

Source

Identifiers

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

Genes

POR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

P450 Oxidoreductase deficiency: Analysis of mutations and polymorphisms.PMID 27068427Read ↗

Pharmacogenomics of human P450 oxidoreductaseSemantic proximity Read ↗

NADPH P450 oxidoreductase: structure, function, and pathology of diseases.Semantic proximity Read ↗

Cytochrome P450 oxidoreductase deficiency: rare congenital disorder leading to skeletal malformations and steroidogenic defects.Semantic proximity Read ↗

Novel compound heterozygous POR variants in a neonate with Antley-Bixler syndrome and 46,XY DSD: a case report and literature review.Semantic proximity Read ↗

Case Report: Integrating clinical presentation and genetic analysis in P450 oxidoreductase deficiency: a novel mutation and systematic review.Semantic proximity Read ↗

Exploring Novel Variants of Cytochrome P450 Reductase Gene (POR) from the Genome Aggregation Database by Integrating Bioinformatic Tools and Functional AssaysSemantic proximity Read ↗

Exploring Novel Variants of the Cytochrome P450 Reductase Gene (POR) from the Genome Aggregation Database by Integrating Bioinformatic Tools and Functional Assays.Semantic proximity Read ↗

P450 Oxidoreductase Deficiency: Loss of Activity Caused by Protein Instability From a Novel L374H Mutation.Semantic proximity Read ↗

In Silico Analysis of PORD Mutations on the 3D Structure of P450 Oxidoreductase.Semantic proximity Read ↗

P450 oxidoreductase deficiency: a new disorder of steroidogenesis.Semantic proximity Read ↗

Diagnostic challenges and management advances in cytochrome P450 oxidoreductase deficiency, a rare form of congenital adrenal hyperplasia, with 46, XX karyotypeSemantic proximity Read ↗

P450 Oxidoreductase Deficiency: A Systematic Review and Meta-analysis of Genotypes, Phenotypes, and Their Relationships.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.