基因名:
CYBB
产品别名:
AMCBX2; CGD; CGDX; GP91-1; GP91-PHOX; GP91PHOX; IMD34; NOX2; p91-PHOX; CYBB; cytochrome b-245 beta chain; cytochrome b-245 beta chain; cytochrome b-245 heavy chain; CGD91-phox; NADPH oxidase 2; cytochrome b(558) subunit beta; cytochrome b-245 beta polypeptide; cytochrome b558 subunit beta; heme-binding membrane glycoprotein gp91phox; neutrophil cytochrome b 91 kDa polypeptide; p22 phagocyte B-cytochrome; superoxide-generating NADPH oxidase heavy chain subunit; NADPH氧化酶2; 细胞色素b-245β肽(CYBb);
背景信息:
NOX2/gp91phox is a critical component of the membrane-bound oxidase of phagocytes that generates superoxide. It is the terminal component of a respiratory chain that transfers single electrons from cytoplasmic NADPH across the plasma membrane to molecular oxygen on the exterior. It also functions as a voltage-gated proton channel that mediates the H(+) currents of resting phagocytes. It participates in the regulation of cellular pH and is blocked by zinc. Defects in CYBB are a cause of X-linked chronic granulomatous disease (X-CGD). X-CGD is characterized by the failure of activated phagocytes to generate superoxide. Patients suffer from life-threatening bacterial/fungal infections.