Primary Identifier | MGI:1333743 | Organism | mouse, laboratory |
Chromosome | 19 | NCBI Gene Number | 17476 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables pore-forming activity and wide pore channel activity. Involved in antigen processing and presentation of exogenous peptide antigen via MHC class I; defense response to bacterium; and dendritic cell antigen processing and presentation. Located in phagocytic vesicle. Is active in endolysosome and phagocytic vesicle membrane. Is expressed in several structures, including blood vessel; central nervous system; genital tubercle; and retina outer nuclear layer. Human ortholog(s) of this gene implicated in primary immunodeficiency disease. Orthologous to human MPEG1 (macrophage expressed 1). PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased in susceptibility to infection induced morbidity/mortality induced by an isogenic cif::aadA or wild-type version of Y. pseudotuberculosis. [provided by MGI curators] |