Gene Symbol | POR |
Entrez Gene ID | 5447 |
Full Name | cytochrome p450 oxidoreductase |
Synonyms | CPR,CYPOR,P450R |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 (3); Disordered steroidogenesis due to cytochrome P450 oxidoreductase, 613571 (3) |