Primary Identifier | MGI:2135637 | Organism | mouse, laboratory |
Chromosome | 4 | NCBI Gene Number | 57320 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables oxygen sensor activity and peroxiredoxin activity. Involved in several processes, including detoxification of inorganic compound; negative regulation of intrinsic apoptotic signaling pathway; and negative regulation of metabolic process. Acts upstream of or within several processes, including dopamine uptake involved in synaptic transmission; membrane hyperpolarization; and positive regulation of reactive oxygen species biosynthetic process. Located in several cellular components, including cell body; endoplasmic reticulum; and mitochondrion. Is active in synaptic vesicle. Is expressed in central nervous system and retina. Used to study Parkinson's disease 7. Human ortholog(s) of this gene implicated in Parkinson's disease; Parkinson's disease 7; Parkinsonism; cerebral infarction; and middle cerebral artery infarction. Orthologous to human PARK7 (Parkinsonism associated deglycase). PHENOTYPE: Homozygous null mice exhibit reduced evoked dopamine overflow in the striatum, resulting primarily from increased dopamine uptake. Mice show hyopactivity, absent long-term depression in medium spiny neurons and decreased sensitivity of nigral neurons to dopamine. [provided by MGI curators] |