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 12-44 to 52-86 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.
A synthesized peptide derived from human ATXN7, corresponding to a region within the internal amino acids.
A synthesized peptide derived from human ATXN7L1, corresponding to a region within N-terminal amino acids.
A synthesized peptide derived from human ATXN7L1, corresponding to a region within the internal amino acids.
A synthesized peptide derived from human ATXN7L1 corresponding to a region within the internal amino acids.
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