Primary Identifier | MGI:103070 | Organism | mouse, laboratory |
Chromosome | 17 | NCBI Gene Number | 14961 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables peptide antigen binding activity. Acts upstream of or within antigen processing and presentation of exogenous peptide antigen via MHC class II and immune response. Located in Golgi apparatus; endosome; and external side of plasma membrane. Part of MHC class II protein complex. Is expressed in several structures, including adipose tissue; bone; hemolymphoid system; liver; and lung. Used to study dilated cardiomyopathy and myocarditis. Human ortholog(s) of this gene implicated in several diseases, including allergic disease (multiple); autoimmune disease (multiple); bacterial infectious disease (multiple); hematologic cancer (multiple); and liver disease (multiple). Orthologous to several human genes including HLA-DQB1 (major histocompatibility complex, class II, DQ beta 1). PHENOTYPE: Homozygotes for targeted null mutations exhibit depletion of mature CD4+ T cells, deficiency in cell-mediated immune responses, and increased susceptibility to viral infections. [provided by MGI curators] |