|
Background
|
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.
Alias Symbols: AT3, JOS, MJD, ATX3, MJD1, SCA3
Protein Interaction Partner: UBC, NEDD8, ATXN3, TRIM63, SQSTM1, VCP, ITCH, PARK2, MGRN1, TUBB, HDAC6, TUBA1A, ELC1, ELA1, SYVN1, BAG3, BCL2L1, STUB1, SUMO1, APP, RFFL, TRIM55, SPRTN, PJA1, TRIM54, USP21, UBE2L3, ARHGDIA, ASIC1, RAD23B, RAD23A, ARHGAP19, C16orf70, TEX11, PICK1, GSK3B,
|
