NADPH--cytochrome P450 reductase Recombinant Protein | NCPR recombinant protein
Recombinant Human NADPH--cytochrome P450 reductase
NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
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.
Protein type: EC 1.6.2.4; Endoplasmic reticulum; Mitochondrial; Oxidoreductase
Chromosomal Location of Human Ortholog: 7q11.23
Cellular Component: endoplasmic reticulum membrane; intracellular membrane-bound organelle; membrane
Molecular Function: NADPH-hemoprotein reductase activity; protein binding
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
Research Articles on NCPR
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Product Notes
The NCPR por (Catalog #AAA9420556) is a Recombinant Protein produced from E Coli and is intended for research purposes only. The product is available for immediate purchase. The immunogen sequence is Partial of the Full Length of 2-677aa, 2-671aa. The Recombinant Human NADPH--cytochrome P450 reductase reacts with Human and may cross-react with other species as described in the data sheet. It is sometimes possible for the material contained within the vial of "NADPH--cytochrome P450 reductase, Recombinant Protein" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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