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Gene : CYBB Homo sapiens

Name  ? cytochrome b-245 beta chain Cytological Location  Xp21.1-p11.4
Brief Description  cytochrome b-245 beta chain
Description  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]
  • synonyms:
  • cytochrome b-245, beta polypeptide,
  • NADPH oxidase 2,
  • NM_000397,
  • NOX2,
  • GP91-PHOX,
  • uc004ddr.3,
  • p91-PHOX,
  • GP91-1,
  • X04011,
  • CYBB,
  • GP91-PHOX,
  • chronic granulomatous disease,
  • NOX2,
  • IMD34,
  • OTTHUMG00000033175,
  • AMCBX2,
  • GP91PHOX,
  • CGD,
  • CGD,
  • HGNC:2578
  • identifiers:
  • 1536,
  • ENSG00000165168,
  • CYBB

Genome feature

Region: gene ? Length: 33403  
Location: X:37780059-37813461 Cyto location: Xp21.1-p11.4


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Disease

2 Diseases

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3753 SN Ps

5 Cross References

19 Data Sets

3 Homologues

0 Located Features

97 Rna Seq Results