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Protein Page:
POR (human)

POR 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. Defects in POR are the cause of 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. Defects in POR are the cause of 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. Note: This description may include information from UniProtKB.
Protein type: EC; Endoplasmic reticulum; Mitochondrial; Oxidoreductase
Chromosomal Location of Human Ortholog: 7q11.2
Cellular Component: endoplasmic reticulum membrane; intracellular membrane-bound organelle; membrane
Molecular Function: [methionine synthase] reductase activity; NADPH-hemoprotein reductase activity
Biological Process: positive regulation of monooxygenase activity; xenobiotic metabolic process
Disease: Antley-bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis; Antley-bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis; Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Reference #:  P16435 (UniProtKB)
Alt. Names/Synonyms: CPR; CYPOR; DKFZp686G04235; FLJ26468; NADPH--cytochrome P450 reductase; NADPH-dependent cytochrome P450 reductase; NCPR; P450 (cytochrome) oxidoreductase; P450R; POR
Gene Symbols: POR
Molecular weight: 76,690 Da
Basal Isoelectric point: 5.38  Predict pI for various phosphorylation states
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