POR
Chr 7ARcytochrome p450 oxidoreductase
Also known as: CPR, CYPOR, P450R
This gene encodes an endoplasmic reticulum membrane oxidoreductase that is essential for multiple metabolic processes, including reactions catalyzed by cytochrome P450 proteins for metabolism of steroid hormones, drugs and xenobiotics. The encoded protein has a flavin adenine dinucleotide (FAD)-binding domain and a flavodoxin-like domain which bind two cofactors, FAD and FMN, that allow it to donate electrons directly from NADPH to all microsomal P450 enzymes. Mutations in this gene cause a complex set of disorders, including apparent combined P450C17 and P450C21 deficiency, amenorrhea and disordered steroidogenesis, congenital adrenal hyperplasia and Antley-Bixler syndrome, that resemble those caused by defects in steroid metabolizing enzymes such as aromatase, 21-hydroxylase, and 17 alpha-hydroxylase. [provided by RefSeq, Aug 2020]
Primary Disease Associations & Inheritance
Clinical highlights
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
POR · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
AGEWISE: Unravelling the Gut-Hormone Axis in Women's Ageing
RECRUITINGExercise in Hereditary ATTR (ATTRv) Amyloidosis
RECRUITINGStudy of Selected X-linked Disorders: Goltz Syndrome
ACTIVE NOT RECRUITINGCARE-CRC: Microbiome Insights and Correlations for Risk and Outcomes in Colorectal Cancer
RECRUITINGGenetic Bases of Neuroendocrine Neoplasms in Mexican Patients
RECRUITINGA Study of Encorafenib Plus Cetuximab With or Without Chemotherapy in People With Previously Untreated Metastatic Colorectal Cancer
ACTIVE NOT RECRUITINGA Real World Study of Participants With Non-Small Cell Lung Cancer (NSCLC) With Epidermal Growth Factor Receptor Mutation (EGFRm)
NOT YET RECRUITINGExternal Resources
Links to major genomics databases and tools