Primary Identifier | MGI:1930773 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 56695 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable hydroxyacylglutathione hydrolase activity and metal ion binding activity. Acts upstream of or within modulation of chemical synaptic transmission; neuromuscular process controlling posture; and regulation of dopamine metabolic process. Located in mitochondrion. Is active in presynaptic cytosol. Is expressed in central nervous system and retina. Used to study paroxysmal nonkinesigenic dyskinesia 1. Human ortholog(s) of this gene implicated in paroxysmal nonkinesigenic dyskinesia 1. Orthologous to human PNKD (PNKD metallo-beta-lactamase domain containing). PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased levels of the dopamine metabolite 3,4-dihydroxyphenylacetic acid (DOPAC) and lower DOPAC/dopamine ratios after injection of caffeine or ethanol. [provided by MGI curators] |