Primary Identifier | MGI:1859307 | Organism | mouse, laboratory |
Chromosome | 19 | NCBI Gene Number | 54445 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables Toll-like receptor binding activity. Involved in endolysosomal toll-like receptor signaling pathway and intracellular protein transport. Acts upstream of or within several processes, including T cell antigen processing and presentation; antigen processing and presentation of exogenous peptide antigen via MHC class II; and positive regulation of cytokine production. Located in cytoplasmic vesicle; endoplasmic reticulum; and lysosome. Is expressed in brain; cerebral cortex; liver; lung; and spleen. Human ortholog(s) of this gene implicated in brain disease. Orthologous to human UNC93B1 (unc-93 homolog B1, TLR signaling regulator). PHENOTYPE: Mice with a transmembrane domain point mutation have no overt phenotype but fail to mount a normal cytokine response and exhibit increased susceptibility to mouse cytomegalovirus, Lysteria monocytogenes and Staphlococcus aureus. Antigen presentation by MHC class I and II is impaired. [provided by MGI curators] |