Cytochrome b-245 Beta Polypeptide (CYBb)

CGD; GP91PHOX; NOX2; Neutrophil cytochrome b91; Cytochrome b558 beta; Heme-binding membrane glycoprotein gp91phox; Superoxide-generating NADPH oxidase heavy chain

SPN	T473
HGNC	2578
MGI	88574
PubMed	18278805
RGD	620574
UniProt	P04839
Wiki	CYBB

Cytochrome b-245, beta polypeptide is aglycoprotein.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.

Reference

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Nature 322:32-38(1986) [PubMed] [Europe PMC] [Abstract]

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Nature 327:717-720(1987) [PubMed] [Europe PMC] [Abstract]

"Nonhomologous recombination between the cytochrome b558 heavy chain gene (CYBB) and LINE-1 causes an X-linked chronic granulomatous disease."
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Nature 327:720-721(1987) [PubMed] [Europe PMC] [Abstract]

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Erratum
Blood 89:1843-1843(1996)

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Eur. J. Haematol. 58:78-85(1997) [PubMed] [Europe PMC] [Abstract]

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Hum. Genet. 106:473-481(2000) [PubMed] [Europe PMC] [Abstract]

"Characterization of 11 novel mutations in the X-linked chronic granulomatous disease (CYBB gene)."
Hum. Mutat. 18:163-163(2001) [PubMed] [Europe PMC] [Abstract]

"Molecular and functional characterization of a new X-linked chronic granulomatous disease variant (X91+) case with a double missense mutation in the cytosolic gp91phox C-terminal tail."
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"Functional analysis of two-amino acid substitutions in gp91 phox in a patient with X-linked flavocytochrome b558-positive chronic granulomatous disease by means of transgenic PLB-985 cells."
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"Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease."
Nat. Immunol. 12:213-221(2011) [PubMed] [Europe PMC] [Abstract]

"Identification and functional characterization of two novel mutations in the alpha-helical loop (residues 484-503) of CYBB/gp91(phox) resulting in the rare X91(+) variant of chronic granulomatous disease."
Hum. Mutat. 33:471-475(2012) [PubMed] [Europe PMC] [Abstract]

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