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. [provided by RefSeq, Jul 2016]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| ATXN3-20-RE | 20 (40 μL) | 200 μL |  |
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| ATXN3-20-OR | 20 (40 μL) | 200 μL |  |
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| ATXN3-20-GO | 20 (40 μL) | 200 μL |  |
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| ATXN3-20-GR | 20 (40 μL) | 200 μL |  |
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| ATXN3-20-AQ | 20 (40 μL) | 200 μL |  |
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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. [provided by RefSeq, Jul 2016]
Gene Symbol : ATXN3
Gene Name : Ataxin 3
Chromosome : CHR 14: 921,066,20-920,585,51
Locus : 14q32.12
Alt. Genes : OPTN
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