Cybb - cytochrome b-245, beta polypeptide Gene

中文名称：细胞色素 b-245 ， β 多肽

种属: Mus musculus

同用名: Cgd; Cyd; Nox2; gp91-1; gp91phox; CGD91-phox

关于 Cybb

功能概要

该基因编码由重链和轻链组成的异二聚体跨膜离子转运蛋白的重链成分。该转运蛋白介导电子从烟酰胺腺嘌呤二核苷酸磷酸 (NADPH) 转移到氧气以产生超氧化物。这种反应在对病原体的先天免疫反应中很重要。然而，编码蛋白活性的增加也会导致活性氧的产生，从而导致氧化应激并可能导致组织损伤。相反，人类相关基因功能的丧失会导致慢性肉芽肿病。可变剪接导致多个转录变体，尽管其中一些变体的全长性质尚未确定。 [RefSeq 提供，2013 年 5 月]

This gene encodes the heavy chain component of a heterodimeric transmembrane ion transporter composed of both a heavy and a LIGHT chain. This transporter mediates the transfer of electrons from nicotinamide adenine dinucleotide phosphate (NADPH) to oxygen to generate superoxide. This reaction is important in the innate immune response to pathogens. However, increased activity of the encoded protein also leads to the generation of Reactive Oxygen Species that result in oxidative stress and can cause tissue damage. Conversely, loss of function of the related gene in human causes chronic granulomatous disease. Alternative splicing results in multiple transcript variants, although the full-length nature of some of these variants has not been determined. [provided by RefSeq, May 2013]