Primary Identifier | MGI:1355296 | Organism | mouse, laboratory |
Chromosome | 17 | NCBI Gene Number | 50873 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables ubiquitin protein ligase activity. Involved in several processes, including negative regulation of intrinsic apoptotic signaling pathway; positive regulation of dendrite extension; and positive regulation of protein linear polyubiquitination. Acts upstream of or within several processes, including catecholamine metabolic process; chemical synaptic transmission; and startle response. Located in mitochondrion; neuron projection; and nucleus. Part of protein-containing complex. Is active in dopaminergic synapse. Is expressed in several structures, including face; nervous system; pancreas; sensory organ; and skeleton. Used to study Parkinson's disease 2. Human ortholog(s) of this gene implicated in Parkinson's disease; Parkinson's disease 2; lung cancer; and ovarian cancer. Orthologous to human PRKN (parkin RBR E3 ubiquitin protein ligase). PHENOTYPE: Dopamine and glutatamate transmission are impaired in some targeted null mice, resulting in decreased exploratory behavior. These mice show decreased body weight and temperature. Park2 is inactivated as part of a large deletion in the quaking mouse, a dysmyelinating mutant with a pronounced tremor. [provided by MGI curators] |