Primary Identifier | MGI:1916193 | Organism | mouse, laboratory |
Chromosome | 4 | NCBI Gene Number | 68943 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables ATP binding activity; magnesium ion binding activity; and protein kinase activity. Involved in several processes, including negative regulation of apoptotic process; protein stabilization; and regulation of gene expression. Acts upstream of or within positive regulation of dopamine secretion; positive regulation of dopaminergic synaptic transmission; and positive regulation of mitochondrial electron transport, NADH to ubiquinone. Located in endoplasmic reticulum and mitochondrial inner membrane. Is expressed in several structures, including alimentary system; cardiovascular system; central nervous system; genitourinary system; and sensory organ. Used to study Parkinson's disease 6. Human ortholog(s) of this gene implicated in Parkinson's disease and Parkinson's disease 6. Orthologous to human PINK1 (PTEN induced kinase 1). PHENOTYPE: Some mice homozygous for null mutations exhibit decreased dopamine content, reduced long term potentional and depression, mitochondrial abnormalities, and/or behavioral abnormalities. Some null mice model the early stages of Parkinson Disease. [provided by MGI curators] |