Full name: ataxin 3

Gene type: protein coding

RefSeq status: VALIDATED

Also known as: 2210008M02Rik; ATX3; MJD1; Mjd; Sca3; ataxin-3

Summary: Enables thiol-dependent deubiquitinase and ubiquitin protein ligase binding activity. Involved in cellular response to misfolded protein and proteolysis. 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. Human ortholog(s) of this gene implicated in Machado-Joseph disease. Orthologous to several human genes including ATXN3 (ataxin 3). [provided by Alliance of Genome Resources, Apr 2022]

Expression: Ubiquitous expression in testis adult (RPKM 13.9), bladder adult (RPKM 6.4) and 24 other tissues

Gene size: 42980bp

Exon count: 12