| Primary Identifier | MGI:88574 | Organism | mouse, laboratory |
| Chromosome | X | NCBI Gene Number | 13058 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables superoxide-generating NAD(P)H oxidase activity. Involved in inflammatory response; innate immune response; and superoxide metabolic process. Acts upstream of or within hydrogen peroxide biosynthetic process. Located in phagocytic vesicle and plasma membrane. Part of NADPH oxidase complex. Is expressed in several structures, including alimentary system; brain; cardiac muscle tissue; genitourinary system; and immune system. Used to study chronic granulomatous disease and systemic lupus erythematosus. Human ortholog(s) of this gene implicated in X-linked chronic granulomatous disease; chronic granulomatous disease; and immunodeficiency 34. Orthologous to human CYBB (cytochrome b-245 beta chain). PHENOTYPE: Nullizygous mice show alterations in acute inflammation, synaptic plasticity, memory, metastatic potential, susceptibility to infection and induced GI injury, inflammatory response to chemical peritonitis, vascular response to Ang II, hypoxia-induced LV remodeling, and L-NAME-caused renal responses. Homozygotes for a null allele show postnatal lethality, decreased birth weight, cardiac septal and valve defects, and impaired atrioventricular cushion development. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
