Primary Identifier | MGI:1194899 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 19062 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables inositol bisphosphate phosphatase activity; phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity; and vasopressin receptor activity. Involved in several processes, including cellular response to cAMP; negative regulation of metabolic process; and negative regulation of signal transduction. Acts upstream of or within in utero embryonic development and response to insulin. Located in endoplasmic reticulum. Is expressed in central nervous system and skeletal musculature. Human ortholog(s) of this gene implicated in congenital muscular dystrophy with cataracts and intellectual disability. Orthologous to human INPP5K (inositol polyphosphate-5-phosphatase K). PHENOTYPE: Homozygous disruption of this gene leads to embryonic lethality. Adult heterozygous mutant mice show normal food intake and adiposity but exhibit enhanced glucose homeostasis and insulin sensitivity, increased insulin action in skeletal muscle, and reduced diet-induced obesity. [provided by MGI curators] |