Primary Identifier | MGI:1933162 | Organism | mouse, laboratory |
Chromosome | 3 | NCBI Gene Number | 80877 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable protein kinase A binding activity and protein kinase binding activity. Acts upstream of or within cellular response to leukemia inhibitory factor. Located in several cellular components, including endoplasmic reticulum; lysosome; and trans-Golgi network. Is expressed in branchial arch; central nervous system; limb; sensory organ; and somite. Human ortholog(s) of this gene implicated in common variable immunodeficiency 8. Orthologous to human LRBA (LPS responsive beige-like anchor protein). PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased numbers of myeloid-derived suppressor cells and regulatory T cells, abnormal NK cell physiology, impaired rejection of allogeneic, xenogeneic and missing self bone-marrow grafts, and resistance to acute graft vs host disease. [provided by MGI curators] |