基因名:
ATXN3
产品别名:
AT3; ATX3; JOS; MJD; MJD1; SCA3; ATXN3; ataxin 3; ataxin 3; ataxin-3; Machado-Joseph disease protein 1; josephin; olivopontocerebellar ataxia 3; spinocerebellar ataxia type 3 protein; 脊髓小脑性共济失调蛋白3;
背景信息:
Ataxin3 is a Machado-Josephine domain-containing deubiquitinating enzyme. Machado–Joseph disease (MJD) is a neurodegenerative disorder caused by polyQ expansion in ataxin-3. Ataxin3 is involved in protein homeostasis maintenance, transcription, cytoskeleton regulation, myogenesis and degradation of misfolded chaperone substrates.