Primary Identifier | MGI:88039 | Organism | mouse, laboratory |
Chromosome | 18 | NCBI Gene Number | 11789 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including beta-catenin binding activity; dynein complex binding activity; and enzyme binding activity. Involved in insulin receptor signaling pathway; positive regulation of cold-induced thermogenesis; and positive regulation of protein localization to centrosome. Acts upstream of or within several processes, including negative regulation of epithelial cell proliferation; regionalization; and regulation of apoptotic process. Located in several cellular components, including axonal growth cone; cell projection membrane; and microtubule cytoskeleton. Part of Scrib-APC-beta-catenin complex. Is active in glutamatergic synapse and postsynapse. Is expressed in several structures, including alimentary system; central nervous system; eye; genitourinary system; and peripheral nervous system ganglion. Used to study breast cancer; familial adenomatous polyposis; gastrointestinal system cancer (multiple); and reproductive organ cancer (multiple). Human ortholog(s) of this gene implicated in several diseases, including carcinoma (multiple); familial adenomatous polyposis 1; gastrointestinal system cancer (multiple); hereditary desmoid disease; and reproductive organ cancer (multiple). Orthologous to human APC (APC regulator of WNT signaling pathway). PHENOTYPE: Most targeted and hypomorphic heterozygous mutants develop intestinal polyps and colorectal cancer, associated with anemia from intestinal bleeding. Homozygotes are embryonic lethal. Homozygotes for a mild alleles survive and have less extreme tumor incidence. [provided by MGI curators] |