Primary Identifier | MGI:1346527 | Organism | mouse, laboratory |
Chromosome | 17 | NCBI Gene Number | 16913 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0) Predicted to enable endopeptidase activity. Involved in fat cell differentiation. Acts upstream of or within antigen processing and presentation. Part of proteasome core complex and spermatoproteasome complex. Is expressed in thymus primordium. Human ortholog(s) of this gene implicated in proteasome-associated autoinflammatory syndrome 1. Orthologous to human PSMB8 (proteasome 20S subunit beta 8). PHENOTYPE: Mice homozygous for disruptions in this gene display an essentially normal phenotype. However they have a reduced ability to process MHC class I restricted antigens. [provided by MGI curators] |