ArticleMolecular and cellular endocrinology2011
Consequences of POR mutations and polymorphisms.
Article in Molecular and cellular endocrinology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
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Who cites it
39 citing papers in PubMed, 90 citations in OpenAlex.
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- The oligogenic inheritance test GCOD detects risk genes and their interactions in congenital heart defects.Genome research · 2026Article
- Characterisation of pharmacogenomic variation in the Shetland and Orkney Isles in Scotland.Scientific reports · 2025Article
- Disordered Electron Transfer: New Forms of Defective Steroidogenesis and Mitochondriopathy.The Journal of clinical endocrinology and metabolism · 2025Review
- Effect of concomitant use of yokukansan on steady-state blood concentrations of donepezil and risperidone in real-world clinical practice.Neuropsychopharmacology reports · 2024Article
- Pharmacogenetics of Calcineurin inhibitors in kidney transplant recipients: the African gap. A narrative review.Pharmacogenomics · 2024Review
- Allosteric modulation of cytochrome P450 enzymes by the NADPH cytochrome P450 reductase FMN-containing domain.The Journal of biological chemistry · 2023Article
- [Audiological phenotypes of Antlet-Bixler syndrome: a case report and literatures review].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2023Article
- Nitroreduction: A Critical Metabolic Pathway for Drugs, Environmental Pollutants, and Explosives.Chemical research in toxicology · 2022Review
- Characterization ofPharmacogenomics · 2022Article
- The POR rs10954732 polymorphism decreases susceptibility to hepatocellular carcinoma and hepsin as a prognostic biomarker correlated with immune infiltration based on proteomics.Journal of translational medicine · 2022Article
- Antley-Bixler syndrome arising from compound heterozygotes in the P450 oxidoreductase gene: a case report.Translational pediatrics · 2021Article
- POR polymorphisms are associated with 21 hydroxylase deficiency.Journal of endocrinological investigation · 2021Article
- Steroidogenic electron-transfer factors and their diseases.Annals of pediatric endocrinology & metabolism · 2021Article
- Successful live birth in a Chinese woman with P450 oxidoreductase deficiency through frozen-thawed embryo transfer: a case report with review of the literature.Journal of ovarian research · 2021Review
- Effects of Diminished NADPH:cytochrome P450 Reductase in Human Hepatocytes on Lipid and Bile Acid Homeostasis.Frontiers in pharmacology · 2021Article
- Follicular fluid steroid profile in sows: relationship to follicle size and oocyte quality†.Biology of reproduction · 2020Article
- Proximal Tubular Vacuolization and Hypersensitivity to Drug-Induced Nephrotoxicity in Male Mice With Decreased Expression of the NADPH-Cytochrome P450 Reductase.Toxicological sciences : an official journal of the Society of Toxicology · 2020Article
- 46,XX DSD due to Androgen Excess in Monogenic Disorders of Steroidogenesis: Genetic, Biochemical, and Clinical Features.International journal of molecular sciences · 2019Review
- NADPH-cytochrome P450 reductase expression and enzymatic activity in primary-like human hepatocytes and HepG2 cells for in vitro biotransformation studies.Clinical hemorheology and microcirculation · 2019Article
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
Abstract
P450 oxidoreductase (POR) transports electrons from NADPH to all microsomal cytochrome P450 enzymes, including steroidogenic P450c17, P450c21 and P450aro. Severe POR mutations A287P (in Europeans) and R457H (in Japanese) cause the Antley-Bixler skeletal malformation syndrome (ABS) plus impaired steroidogenesis (causing genital anomalies), but the basis of ABS is unclear. We have characterized the activities of ∼40 POR variants, showing that assays based on P450c17 activities, but not cytochrome c assays, correlate with the clinical phenotype. The human POR gene is highly polymorphic: the A503V sequence variant, which decreases P450c17 activities to ∼60%, is found on ∼28% of human alleles. A promoter polymorphism (∼8% of Asians and ∼13% of Caucasians) at -152 reduces transcriptional activity by half. Screening of 35 POR variants showed that most mutants lacking activity with P450c17 or cytochrome c also lacked activity to support CYP1A2 and CYP2C19 metabolism of EOMCC (a fluorogenic non-drug substrate), although there were some remarkable differences: Q153R causes ABS and has ∼30% of wild-type activity with P450c17 but had 144% of WT activity with CYP1A2 and 284% with CYP2C19. The effects of POR variants on CYP3A4, which metabolizes nearly 50% of clinically used drugs, was examined with multiple, clinically relevant drug substrates, showing that A287P and R457H dramatically reduce drug metabolism, and that A503V variably impairs drug metabolism. The degree of activity can vary with the drug substrate assayed, as the drugs can influence the conformation of the P450. POR is probably an important contributor to genetic variation in both steroidogenesis and drug metabolism.
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Registered trials
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