Primary Identifier | MGI:98483 | Organism | mouse, laboratory |
Chromosome | 17 | NCBI Gene Number | 21354 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables ABC-type peptide antigen transporter activity and MHC class I protein binding activity. Acts upstream of or within defense response. Located in mitochondrion. Is expressed in cranium; early conceptus; limb; nervous system; and oocyte. Human ortholog(s) of this gene implicated in several diseases, including MHC class I deficiency; autoimmune disease (multiple); bronchial disease (multiple); diffuse scleroderma; and lung disease (multiple). Orthologous to human TAP1 (transporter 1, ATP binding cassette subfamily B member). PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene are deficient in antigen presentation, surface class I antigens, and CD4-8+ T cells. [provided by MGI curators] |