| Primary Identifier | MGI:1338071 | Organism | mouse, laboratory |
| Chromosome | 8 | NCBI Gene Number | 16150 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables IkappaB kinase activity and protein phosphatase binding activity. Involved in canonical NF-kappaB signal transduction; cell surface receptor signaling pathway; and peptidyl-serine phosphorylation. Acts upstream of or within B cell homeostasis; positive regulation of cation channel activity; and positive regulation of sodium ion transport. Located in cytoplasmic side of plasma membrane. Part of CD40 receptor complex and IkappaB kinase complex. Is expressed in several structures, including cerebral cortex; genitourinary system; heart; and musculature. Used to study immunodeficiency 15A. Human ortholog(s) of this gene implicated in several diseases, including breast cancer; combined immunodeficiency (multiple); liver cancer; prostate cancer (multiple); and type 2 diabetes mellitus. Orthologous to human IKBKB (inhibitor of nuclear factor kappa B kinase subunit beta). PHENOTYPE: Homozygotes for targeted null mutations exhibit liver degeneration and die in midgestation. Conditional mutations that lack gene expression in lymphoid cells or epidermal keratinocytes exhibit B and T cell deficits and skin inflammation, respectively. [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
