POR

POR (Cytochrome P450 Oxidoreductase) is a Protein Coding gene. Diseases associated with POR include Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis and Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency. Among its related pathways are Metabolism and Cytochrome P450 - arranged by substrate type. Gene Ontology (GO) annotations related to this gene include enzyme binding and hydrolase activity. An important paralog of this gene is NOS1.

Full Name

Cytochrome P450 Oxidoreductase

Function

This enzyme is required for electron transfer from NADP to cytochrome P450 in microsomes. It can also provide electron transfer to heme oxygenase and cytochrome B5.

Biological Process

Carnitine metabolic processIEA:Ensembl
Cellular organofluorine metabolic processManual Assertion Based On ExperimentIDA:BHF-UCL
Cellular response to follicle-stimulating hormone stimulusIEA:Ensembl
Cellular response to peptide hormone stimulusIEA:Ensembl
DemethylationIEA:Ensembl
Electron transport chainManual Assertion Based On ExperimentIDA:UniProtKB
Fatty acid oxidationIEA:Ensembl
Flavonoid metabolic processIEA:Ensembl
Internal peptidyl-lysine acetylationIEA:Ensembl
Negative regulation of cysteine-type endopeptidase activity involved in apoptotic processIEA:Ensembl
Negative regulation of lipase activityIEA:Ensembl
Nitrate catabolic processIEA:Ensembl
Nitric oxide catabolic processIEA:Ensembl
Positive regulation of cholesterol biosynthetic processIEA:Ensembl
Positive regulation of chondrocyte differentiationIEA:Ensembl
Positive regulation of monooxygenase activityManual Assertion Based On ExperimentIDA:BHF-UCL
Positive regulation of smoothened signaling pathwayIEA:Ensembl
Positive regulation of steroid hormone biosynthetic processIEA:Ensembl
Regulation of growth plate cartilage chondrocyte proliferationIEA:Ensembl
Response to dexamethasoneIEA:Ensembl
Response to hormoneManual Assertion Based On ExperimentIBA:GO_Central
Response to nutrientIEA:Ensembl
Xenobiotic metabolic processTAS:Reactome

Cellular Location

Endoplasmic reticulum membrane

Involvement in disease

Antley-Bixler syndrome, with genital anomalies and disordered steroidogenesis (ABS1):
A disease characterized by the association of Antley-Bixler syndrome with steroidogenesis defects and abnormal genitalia. Antley-Bixler syndrome is characterized by craniosynostosis, radiohumeral synostosis present from the perinatal period, midface hypoplasia, choanal stenosis or atresia, femoral bowing and multiple joint contractures.
Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency (DISPORD):
A disorder resulting in a rare variant of congenital adrenal hyperplasia, with apparent combined P450C17 and P450C21 deficiency and accumulation of steroid metabolites. Affected girls are born with ambiguous genitalia, but their circulating androgens are low and virilization does not progress. Conversely, affected boys are sometimes born undermasculinized. Boys and girls can present with bone malformations, in some cases resembling the pattern seen in patients with Antley-Bixler syndrome.

Topology

Lumenal: 2-21
Helical: 22-42
Cytoplasmic: 43-677