Gene Symbol | CYBB |
Entrez Gene ID | 1536 |
Full Name | cytochrome b-245 beta chain |
Synonyms | AMCBX2,CGD,GP91-1,GP91-PHOX,GP91PHOX,IMD34,NOX2,p91-PHOX |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | Cytochrome b (-245) is composed of cytochrome b alpha (CYBA) and beta (CYBB) chain. It has been proposed as a primary component of the microbicidal oxidase system of phagocytes. CYBB deficiency is one of five described biochemical defects associated with chronic granulomatous disease (CGD). In this disorder, there is decreased activity of phagocyte NADPH oxidase; neutrophils are able to phagocytize bacteria but cannot kill them in the phagocytic vacuoles. The cause of the killing defect is an inability to increase the cell's respiration and consequent failure to deliver activated oxygen into the phagocytic vacuole. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Chronic granulomatous disease, X-linked, 306400 (3); Immunodeficiency 34, mycobacteriosis, X-linked, 300645 (3) |