Primary Identifier | MGI:1336153 | Organism | mouse, laboratory |
Chromosome | 5 | NCBI Gene Number | 108099 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable adenyl ribonucleotide binding activity; protein kinase binding activity; and protein kinase regulator activity. Predicted to contribute to AMP-activated protein kinase activity. Predicted to be involved in several processes, including cellular response to glucose starvation; regulation of carbon utilization; and regulation of primary metabolic process. Predicted to be located in cytosol and nucleoplasm. Predicted to be part of nucleotide-activated protein kinase complex. Predicted to be active in cytoplasm and nucleus. Is expressed in several structures, including alimentary system; heart and pericardium; nervous system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in Wolff-Parkinson-White syndrome; glycogen storage disease; hypertrophic cardiomyopathy 6; and lethal congenital glycogen storage disease of heart. Orthologous to human PRKAG2 (protein kinase AMP-activated non-catalytic subunit gamma 2). PHENOTYPE: Homozygous constitutively active mutants develop age related obesity caused by polyphagia, glucose intolerance and insulin resistance and exhibit slowing of heart rate. [provided by MGI curators] |