Gene

Pnkd

Species
Mus musculus
Symbol
Pnkd
Name
paroxysmal nonkinesiogenic dyskinesia
Synonyms
  • 2210013N15Rik
  • 2810403H05Rik
Biotype
protein coding gene
Automated Description
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).
MGI Description
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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR11935
No data available
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

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    Disease Associations

    Cases where the expected disease association was NOT found
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      Alleles and Variants

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        Transgenic Alleles

        Species
        (carrying the transgene)
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          Models

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            Sequence Feature Viewer

            Genome location
            Assembly version
            GRCm39
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            74.33M74.34M74.35M74.36M74.37M74.38M74.39M

            Sequence Details

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            Expression

            Primary Sources
            Other Sources
            Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

            Molecular Interactions

            Pnkd molecule type
            Interactor gene
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              Genetic Interactions

              Pnkd role
              Pnkd genetic perturbation
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