Primary Identifier | MGI:95851 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 227753 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables phosphatidylinositol 3-kinase catalytic subunit binding activity. Involved in several processes, including actin filament capping; actin polymerization or depolymerization; and positive regulation of protein processing in phagocytic vesicle. Acts upstream of or within cellular response to type II interferon and vesicle-mediated transport. Located in lamellipodium and phagocytic vesicle. Colocalizes with focal adhesion. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; heart; and sensory organ. Human ortholog(s) of this gene implicated in Finnish type amyloidosis. Orthologous to human GSN (gelsolin). PHENOTYPE: Mice homozygous for disruptions in this gene display abnormalities in the immune system, platelet and platelet function, bone density, nervous and circulatory system. In addition, there are background related effects on viability and mammary gland development. [provided by MGI curators] |