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Protein Coding Gene : Park7 Parkinson disease (autosomal recessive, early onset) 7

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 7.1.0)

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 protein 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]
  • synonyms:
  • Park7,
  • Parkinson disease (autosomal recessive, early onset) 7,
  • DJ-1

Features --> Cross References

Genome

Sequence Feature Displayer

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

3 Involved In Mutations

0 Strain

0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

9 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

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0 Driver For