CYBB


CYBB
Cytochrome b-245, beta polypeptide
Identifiers
Symbols CYBB; CGD; GP91-1; GP91-PHOX; GP91PHOX; NOX2; p91-PHOX
External IDs OMIM300481 MGI88574 HomoloGene68054 GeneCards: CYBB Gene
RNA expression pattern
PBB GE CYBB 203923 s at tn.png
PBB GE CYBB 203922 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 1536 13058
Ensembl ENSG00000165168 ENSMUSG00000015340
UniProt P04839 Q3TVP4
RefSeq (mRNA) NM_000397.3 NM_007807.4
RefSeq (protein) NP_000388.2 NP_031833.3
Location (UCSC) Chr X:
37.64 – 37.67 Mb
Chr X:
9.01 – 9.06 Mb
PubMed search [1] [2]

Cytochrome b-245, beta polypeptide (chronic granulomatous disease)-- also known as CYBB, P91-PHOX, and NOX2-- is a human gene encoding a glycoprotein.

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.[1]

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