Primary Identifier | MGI:1316658 | Organism | mouse, laboratory |
Chromosome | 8 | NCBI Gene Number | 13057 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable SH3 domain binding activity; electron transfer activity; and protein heterodimerization activity. Predicted to contribute to superoxide-generating NAD(P)H oxidase activity. Involved in innate immune response. Acts upstream of or within positive regulation of mucus secretion; reactive oxygen species metabolic process; and regulation of release of sequestered calcium ion into cytosol. Located in endosome. Part of NADPH oxidase complex. Is expressed in several structures, including genitourinary system; hemolymphoid system; inner ear; limb; and liver. Human ortholog(s) of this gene implicated in artery disease (multiple); asthma; chronic obstructive pulmonary disease; and phagocyte bactericidal dysfunction (multiple). Orthologous to human CYBA (cytochrome b-245 alpha chain). PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit defects in balance, absence of otoconia, and an inability of phagocytes to produce bacteria-destroying reactive oxygen species. [provided by MGI curators] |