Primary Identifier | MGI:1277211 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 22177 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables signaling receptor binding activity. Involved in several processes, including myeloid cell activation involved in immune response; regulation of cytokine production; and regulation of lymphocyte activation. Acts upstream of or within osteoclast differentiation and regulation of osteoclast development. Located in cell surface. Is expressed in blood vessel; brain; central nervous system; corpus callosum; and embryo. Used to study Nasu-Hakola disease. Human ortholog(s) of this gene implicated in Nasu-Hakola disease. Orthologous to human TYROBP (transmembrane immune signaling adaptor TYROBP). PHENOTYPE: Homozygotes for targeted null mutations exhibit osteopetrosis, hypomyelination (especially of the thalamus), synaptic degeneration, and impaired oligodendrocyte, NK, and dendritic cell function. [provided by MGI curators] |