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Protein Coding Gene : Pnkd paroxysmal nonkinesiogenic dyskinesia

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 7.0.0)

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. 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]
  • synonyms:
  • MGI:2146944,
  • Pnkd,
  • 2810403H05Rik,
  • brain protein 17,
  • MGI:1913716,
  • paroxysmal nonkinesiogenic dyskinesia,
  • MGI:1924205,
  • AI854243,
  • RIKEN cDNA 2210013N15 gene,
  • Brp17,
  • RIKEN cDNA 2810403H05 gene,
  • expressed sequence AI854243,
  • 2210013N15Rik

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