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Protein Coding Gene : Atxn3 ataxin 3
Primary Identifier  MGI:1099442 Organism  mouse, laboratory
Chromosome  12 NCBI Gene Number  110616
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0)

Enables cysteine-type deubiquitinase activity and ubiquitin protein ligase binding activity. Involved in cellular response to misfolded protein; monoubiquitinated protein deubiquitination; and proteolysis involved in protein catabolic process. Acts upstream of or within several processes, including cellular response to heat; exploration behavior; and ubiquitin-dependent protein catabolic process. Located in mitochondrial matrix; mitochondrial membrane; and nuclear inclusion body. Is expressed in several structures, including alimentary system; brain; hemolymphoid system gland; musculature; and testis. Used to study Machado-Joseph disease. Human ortholog(s) of this gene implicated in Machado-Joseph disease and late onset Parkinson's disease. Orthologous to human ATXN3 (ataxin 3).
PHENOTYPE: Decreased exploratory behavior is reported for mice homozygous for a disruption of this marker. [provided by MGI curators]
  • synonyms:
  • MGI:2144872,
  • MGI:1923952,
  • MJD1,
  • RIKEN cDNA 2210008M02 gene,
  • Mjd,
  • Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3) homolog (human),
  • AI647473,
  • expressed sequence AI463012,
  • MGI:2144838,
  • ataxin 3,
  • Atx3,
  • ataxin-3,
  • AI463012,
  • spinocerebellar ataxia 3 homolog (human),
  • Atxn3,
  • 2210008M02Rik,
  • Sca3,
  • expressed sequence AI647473
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