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中文名称： ATXN3抗原（重组蛋白）
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Full name: |
ataxin 3 |
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Synonyms: |
AT3; JOS; MJD; ATX3; MJD1; SCA3 |
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Swissprot: |
P54252 |
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Gene Accession: |
BC033711 |
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Purity: |
>85%, as determined by Coomassie blue stained SDS-PAGE |
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Expression system: |
Escherichia coli |
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Tags: |
His tag C-Terminus, GST tag N-Terminus |
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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 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. |
