Primary Identifier | MGI:95896 | Organism | mouse, laboratory |
Chromosome | 17 | NCBI Gene Number | 14964 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including 14-3-3 protein binding activity; TAP binding activity; and signaling receptor binding activity. Acts upstream of or within antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent; negative regulation of neuron projection development; and positive regulation of T cell mediated cytotoxicity. Located in external side of plasma membrane. Colocalizes with membrane raft. Is expressed in several structures, including alimentary system; brain; early conceptus; genitourinary system; and hemolymphoid system gland. Human ortholog(s) of this gene implicated in several diseases, including artery disease (multiple); asthma (multiple); autoimmune disease (multiple); eye disease (multiple); and inner ear disease (multiple). Orthologous to several human genes including HLA-B (major histocompatibility complex, class I, B); HLA-C (major histocompatibility complex, class I, C); and HLA-E (major histocompatibility complex, class I, E). PHENOTYPE: Mice homozygous for a spontaneous allele are susceptible to chronic Theiler's Murine Encephalomyelitis Virus (TMEV) infection and demyelination, and lack the ability to respond to the viral peptide VP2121-130, the single Ag driving the protective CD8 T cell response in wild-type B6 mice. [provided by MGI curators] |