菜单 基因医生

该基因编码中性粒细胞胞浆因子2，67 kDaldoton胞浆亚单位的多蛋白NADPH氧化酶复合物中发现中性粒细胞。这种氧化酶产生一种超氧物，它被输送到中性粒细胞吞噬体的内腔。该基因的突变，以及在其他NADPH氧化酶亚基，可导致慢性肉芽肿性疾病，一种疾病，引起反复感染过氧化氢酶阳性生物。选择性剪接导致编码不同亚型的多个转录变体[由RefSeq提供，2010年6月]
This gene encodes neutrophil cytosolic factor 2, the 67-kilodalton cytosolic subunit of the multi-protein NADPH oxidase complex found in neutrophils. This oxidase produces a burst of superoxide which is delivered to the lumen of the neutrophil phagosome. Mutations in this gene, as well as in other NADPH oxidase subunits, can result in chronic granulomatous disease, a disease that causes recurrent infections by catalase-positive organisms. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2010]