Primary Identifier | MGI:97805 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 19246 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0) Enables protein tyrosine phosphatase activity. Involved in IRE1-mediated unfolded protein response; platelet-derived growth factor receptor-beta signaling pathway; and regulation of signal transduction. Acts upstream of or within insulin receptor signaling pathway. Located in early endosome and sorting endosome. Is active in endosome lumen. Is expressed in central nervous system; midbrain; and superior colliculus. Human ortholog(s) of this gene implicated in coronary artery disease; essential hypertension; and type 2 diabetes mellitus. Orthologous to human PTPN1 (protein tyrosine phosphatase non-receptor type 1). PHENOTYPE: Homozygotes for targeted null mutations exhibit greatly reduced adiposity due to reduced fat cell mass, increased basal metabolic rate, mild hypoglycemia and hypoinsulinemia, increased insulin sensitivity, and enhanced sensitivity to leptin. [provided by MGI curators] |