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Rt1-A2

Official Full Name
ataxin 3
Organism
Mus musculus
GeneID
110616
Background
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). [provided by Alliance of Genome Resources, Feb 2025]
Synonyms
Atxn3; Mjd; ATX3; MJD1; Sca3; ataxin-3; 2210008M02Rik;

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