基因名称(Gene Name)
POR CYPOR
蛋白名称
NADPH--cytochrome P450 reductase (CPR) (P450R) (EC 1.6.2.4)
免疫原
Synthesized peptide derived from part region of human protein
特异性
NCPR Monoclonal Antibody detects endogenous levels of protein.
组成
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
稀释比例
Western Blot: 1/500 - 1/2000
纯化工艺
The antibody was affinity-purified from mouse antiserum by affinity-chromatography using epitope-specific immunogen.
背景
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],
功能
catalytic activity:NADPH + n oxidized hemoprotein = NADP(+) + n reduced hemoprotein.,cofactor:FAD.,cofactor:FMN.,disease:Defects in POR are a cause of isolated disordered steroidogenesis (IDS) [MIM:201750].,disease:Defects in POR are the cause of adrenal hyperplasia variant type (AHV) [MIM:201750]; also known as Antley-Bixler syndrome-like phenotype with disordered steroidogenesis. AHV is a rare variant of congenital adrenal hyperplasia. It is an autosomal recessive disorder with apparent combined P450C17 and P450C21 deficiency. 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 also present with bone malformations, in some cases resembling the pattern seen in patients with Antley-Bixler syndrome.,function:This enzyme is required fo
