Description
Product Characteristics:
Interacts with key regulators (CBP, p300 and PCAF) of transcription and represses transcription. Acts as a histone-binding protein that regulates transcription. Acts as a deubiquitinating enzyme.
Subcellular location: Nucleus
Synonyms: AT3, Ataxin 3, Ataxin-3, ATX3, ATX3_HUMAN, ATXN3, EC 3.4.22., JOS, Josephin, Machado Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3), Machado Joseph disease, Machado Joseph disease protein 1, Machado-Joseph disease protein 1, Machado-Joseph disease protein 1 homolog, MJD, MJD gene, MJD1, Olivopontocerebellar ataxia 3, OTTHUMP00000221583, OTTHUMP00000221585, OTTHUMP00000221586, OTTHUMP00000221587, OTTHUMP00000231995, OTTHUMP00000231997, Rsca3, SCA3, SCA3 gene, Spinocerebellar ataxia type 3 protein.
Target Information: Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 13-36 to 68-79 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2009]