Primary Identifier | MGI:1342774 | Organism | mouse, laboratory |
Chromosome | 5 | NCBI Gene Number | 19017 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables RNA polymerase II-specific DNA-binding transcription factor binding activity; nucleic acid binding activity; and transcription coactivator activity. Involved in several processes, including gluconeogenesis; positive regulation of cold-induced thermogenesis; and regulation of gene expression. Acts upstream of or within several processes, including negative regulation of neuron apoptotic process; response to dietary excess; and response to muscle activity. Located in nucleus. Is expressed in several structures, including central nervous system; genitourinary system; heart; hindlimb digit mesenchyme; and sensory organ. Used to study Parkinson's disease; age related macular degeneration; cardiomyopathy; and congestive heart failure. Human ortholog(s) of this gene implicated in several diseases, including macular degeneration; malignant fibrous histiocytoma; metabolic dysfunction-associated steatotic liver disease; neurodegenerative disease (multiple); and type 2 diabetes mellitus. Orthologous to human PPARGC1A (PPARG coactivator 1 alpha). PHENOTYPE: Homozygous null mice display partial postnatal lethality, abnormal glucose and insulin homeostasis, resistance to diet induced obesity, increased oxygen consumption, spongiform encephalopathy, hyperactivity, increased startle reflex, and limb grasping. [provided by MGI curators] |