| Cytochrome B(-245), Beta Subunit | OKDB#: 2918 |
| Symbols: | CYBB | Species: | human | ||
| Synonyms: | CGD, NOX2, GP91-1, GP91PHOX, GP91-PHOX,CYTOCHROME b(558), BETA SUBUNIT|p91-PHOX|NADPH OXIDASE 2, NOX2|GP91-1 | Locus: | Xp21.1 in Homo sapiens |
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| General Comment | NCBI 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. | ||||
| General function | Enzyme | ||||
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| Ovarian localization | Oocyte | ||||
| Comment | Expression of Nox genes in rat organs, mouse oocytes, and sea urchin eggs Maru Y, et al . Degenerate primers were designed to isolate new homologs of Nox family genes in rat organs and sea urchin eggs. The primers were capable of amplifying Nox1, Nox2, Nox3, Nox4, Duox1 and Duox2 but not Nox5, and failed to isolate novel homologs in rat. However, a novel homolog (named as Nox-U1) was identified in sea urchin eggs. In the most conserved region (amino acid 336--417 in human Nox2) Nox-U1 has the highest identity with Nox2, which appears to be abundant in mouse oocytes. However, phylogenetic analysis of the entire sequence has revealed that Nox-U1 is closer to Nox4 or Nox5 than Nox2 or Nox3. Histidine residues assumed to be responsible for heme ligation, motifs for FAD- and NADPH-binding, and two asparagine-linked glycosylation sites are conserved. | ||||
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| Mutations | 0 mutations | ||||
| Genomic Region | show genomic region | ||||
| Phenotypes and GWAS | show phenotypes and GWAS | ||||
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| created: | Sept. 13, 2005, 4:57 p.m. | by: |
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| last update: | Sept. 13, 2005, 4:58 p.m. | by: | system email: |
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