功能： disease:Defects in CYBA are a cause of chronic granulomatous disease autosomal recessive cytochrome-b-negative (ARCGD) [MIM:233690]. Chronic granulomatous disease is a genetically heterogeneous disorder characterized by the inability of neutrophils and phagocytes to kill microbes that they have ingested. Patients suffer from life-threatening bacterial/fungal infections.,function:Critical component of the membrane-bound oxidase of phagocytes that generates superoxide. Associates with NOX3 to form a functional NADPH oxidase constitutively generating superoxide.,miscellaneous:The heme prosthetic group could be coordinated with residues of the light chain, the heavy chain, or both, and it is possible that more than one heme is present per cytochrome b-245.,online information:CYBA mutation db,online information:The Singapore human mutation and polymorphism database,similarity:Belongs to the p22phox family.,subunit:Composed of a heavy chain (beta) and a light chain (alpha). Interacts with DUOX1, DUOX2 and TPO. Interacts with NOX3 and NOX4.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cell membrane . As unassembled monomer may localize to the endoplasmic reticulum. .
功能： disease:Defects in CYBA are a cause of chronic granulomatous disease autosomal recessive cytochrome-b-negative (ARCGD) [MIM:233690]. Chronic granulomatous disease is a genetically heterogeneous disorder characterized by the inability of neutrophils and phagocytes to kill microbes that they have ingested. Patients suffer from life-threatening bacterial/fungal infections.,function:Critical component of the membrane-bound oxidase of phagocytes that generates superoxide. Associates with NOX3 to form a functional NADPH oxidase constitutively generating superoxide.,miscellaneous:The heme prosthetic group could be coordinated with residues of the light chain, the heavy chain, or both, and it is possible that more than one heme is present per cytochrome b-245.,online information:CYBA mutation db,online information:The Singapore human mutation and polymorphism database,similarity:Belongs to the p22phox family.,subunit:Composed of a heavy chain (beta) and a light chain (alpha). Interacts with DUOX1, DUOX2 and TPO. Interacts with NOX3 and NOX4.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cell membrane . As unassembled monomer may localize to the endoplasmic reticulum. .
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