Primary Identifier | MGI:1920243 | Organism | mouse, laboratory |
Chromosome | 14 | NCBI Gene Number | 72993 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including beta-tubulin binding activity; phospholipid binding activity; and protein homodimerization activity. Involved in several processes, including cellular response to hepatocyte growth factor stimulus; positive regulation of cytokine production involved in inflammatory response; and regulation of endocytosis. Located in cytoplasmic vesicle and ruffle. Is expressed in several structures, including liver; muscle tissue; spleen; stomach; and testis. Human ortholog(s) of this gene implicated in maturity-onset diabetes of the young type 14. Orthologous to human APPL1 (adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1). PHENOTYPE: Mice homozygous for a null allele exhibit decreased insulin-induced relaxation and increased insulin-induced ET-1-dependent vasoconstriction when fed a high fat diet. Homozygotes for a second null allele show increased hematocrit and T cell proliferation, and decreased fibroblast cell migration. Homozygotes for a third null allele show hyperactivity, increased body core temperature, and insulin resistance. [provided by MGI curators] |