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基因注释:CYBB

官方信息

官方名称:cytochrome b-245 beta chain

功能摘要: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].

作为靶基因的剪接因子
  • Tardbp 综合评分: 0.346 · 证据 1 条
  • U2af1 综合评分: 0.150 · 证据 1 条
关联疾病

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