| 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 9.1.0) 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 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
