Primary Identifier | MGI:95895 | Organism | mouse, laboratory |
Chromosome | 17 | NCBI Gene Number | 14960 |
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 positive regulation of T cell differentiation. Located in external side of plasma membrane and lysosome. Part of MHC class II protein complex. Is expressed in central nervous system; retina; and thymus primordium. Human ortholog(s) of this gene implicated in several diseases, including autoimmune disease (multiple); gastrointestinal system cancer (multiple); glomerulonephritis (multiple); hematologic cancer (multiple); and systemic scleroderma (multiple). Orthologous to human HLA-DQA1 (major histocompatibility complex, class II, DQ alpha 1) and HLA-DQA2 (major histocompatibility complex, class II, DQ alpha 2). PHENOTYPE: Mice homozygous for a knock-out allele lack cell surface expression of MHC class II molecules on macrophages and show decreased CD4-positive T cell number, increased CD8-positive T cell number, thymus hyperplasia, enlarged lymph nodes, and altered splenocyte response to staphylococcal enterotoxin B. [provided by MGI curators] |