Gene: POR

Alternate names for this Gene: CPR|CYPOR|P450R

Gene Summary: This gene encodes an endoplasmic reticulum membrane oxidoreductase with an FAD-binding domain and a flavodoxin-like domain. The protein binds two cofactors, FAD and FMN, which allow it to donate electrons directly from NADPH to all microsomal P450 enzymes. Mutations in this gene have been associated with various diseases, including apparent combined P450C17 and P450C21 deficiency, amenorrhea and disordered steroidogenesis, congenital adrenal hyperplasia and Antley-Bixler syndrome.

Gene is located in Chromosome: 7

Location in Chromosome : 7q11.23

Description of this Gene: cytochrome p450 oxidoreductase

Type of Gene: protein-coding

rs28931608 in POR gene and Antley-Bixler Syndrome with Disordered Steroidogenesis PMID 14758361 2004 Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome.

PMID 20124576 2010 Ambiguous genitalia, impaired steroidogenesis, and Antley-Bixler syndrome in a patient with P450 oxidoreductase deficiency.

PMID 15483095 2005 Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients.

PMID 20940534 2010 Effects of genetic variants of human P450 oxidoreductase on catalysis by CYP2D6 in vitro.

PMID 28841001 2017 A Case of Antley-Bixler Syndrome With a Novel Likely Pathogenic Variant (c.529G>C) in the POR Gene.

PMID 15220035 2004 Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study.

PMID 22162478 2012 Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.

PMID 19837910 2009 Clinical, genetic, and enzymatic characterization of P450 oxidoreductase deficiency in four patients.

PMID 21741353 2011 Mutations of human cytochrome P450 reductase differentially modulate heme oxygenase-1 activity and oligomerization.

PMID 20732302 2010 Altered heme catabolism by heme oxygenase-1 caused by mutations in human NADPH cytochrome P450 reductase.

rs187104447 in POR gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs41301394 in POR gene and Glomerular Filtration Rate PMID 31451708 2019 Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program.

PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

rs41301394 in POR gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.