Primary Identifier | MGI:96612 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 16416 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables integrin binding activity and protein kinase C binding activity. Involved in several processes, including positive regulation of T cell migration; positive regulation of osteoblast proliferation; and regulation of serotonin uptake. Acts upstream of or within several processes, including blood coagulation; positive regulation of cell-substrate adhesion; and regulation of cell migration. Located in several cellular components, including apical plasma membrane; external side of plasma membrane; and focal adhesion. Part of alpha9-beta1 integrin-ADAM8 complex and alphav-beta3 integrin-PKCalpha complex. Is active in glutamatergic synapse and synaptic membrane. Is expressed in several structures, including bone; brain; early conceptus; genitourinary system; and gut. Used to study Glanzmann's thrombasthenia and platelet-type bleeding disorder 16. Human ortholog(s) of this gene implicated in several diseases, including autoimmune thrombocytopenic purpura; blood platelet disease (multiple); end stage renal disease; myocardial infarction; and non-arteritic anterior ischemic optic neuropathy. Orthologous to human ITGB3 (integrin subunit beta 3). PHENOTYPE: Homozygotes for targeted mutations exhibit platelet defects, extended bleeding times, cutaneous and gastrointestinal bleeding, anemia, increased bone mass, hypocalcemia, reduced survival, and placental defects associated with some fetal loss. [provided by MGI curators] |