Primary Identifier | MGI:1858204 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 53859 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables protein serine/threonine kinase activity. Involved in immune response and non-canonical NF-kappaB signal transduction. Predicted to be located in cytosol; fibrillar center; and nucleoplasm. Is expressed in several structures, including alimentary system; cardiovascular system; nervous system; sensory organ; and skeleton. Used to study Sjogren's syndrome and primary biliary cholangitis. Human ortholog(s) of this gene implicated in primary immunodeficiency disease. Orthologous to human MAP3K14 (mitogen-activated protein kinase kinase kinase 14). PHENOTYPE: Homozygotes for a spontaneous mutation exhibit deficiencies in cellular and humoral immunity, susceptibility to infections, absence of lymph nodes and Peyer's patches, failure of isotype switching, and inflammation of exocrine organs. [provided by MGI curators] |