- accession:NM_001164780
- 基因别名:ATXN3
- 基因描述:Homo sapiens ataxin 3 (ATXN3), transcript variant u, mRNA.
- 载体:现货载体
- CDS区长度:549
- 翻译后氨基酸长度:182
- TranscriptVariant:This variant (u) is one of several transcript variants described in figure 2 of Bettencourt et al. (PMID: 19714377). This variant encodes isoform u. PMID:19714377 predicts that this is a noncoding transcript, but there is a downstream orf that may encode a protein identical to the C-terminus of the reference isoform.
- 基因简介: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]
- 规格:10ul 质粒
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