Machado-Joseph disease is an autosomal dominant neurologic disorder, and is now known to be the same as previously described spinocerebellar ataxia-3. MJD protein (Ataxin-3) contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 13-36 to 68-79 is the cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. This protein interacts with key regulators (CBP, p300 and PCAF) of transcription and represses transcription, and also acts as a histone-binding protein that regulates transcription. MJD is a deubiquitinating enzyme.
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Protein Aliases: ataxin 3 variant an; ataxin 3 variant ao; ataxin 3 variant at; ataxin 3 variant e; ataxin 3 variant h; ataxin 3 variant m; ataxin 3 variant r; ataxin 3 variant ref; ataxin 3 variant y; Ataxin-3; ataxin3; josephin; Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3); Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3) homolog; Machado-Joseph disease protein 1; Machado-Joseph disease protein 1 homolog; olivopontocerebellar ataxia 3; spin; Spinocerebellar ataxia type 3 protein
Gene Aliases: 2210008M02Rik; AI463012; AI647473; AT3; ataxin-3; ATX3; ATXN3; JOS; MJD; MJD1; Rsca3; SCA3
Molecular Function: transcription factor