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 7.1.0) 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 glycogen metabolic process; regulation of fatty acid metabolic process; and regulation of phosphate metabolic process. Predicted to act upstream of or within fatty acid biosynthetic 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] |