人 ATXN3 (NM_004993) cDNA克隆

基本信息

Accession: NM_004993
基因名称: ATXN3
基因别名: AT3; JOS; MJD; ATX3; MJD1; SCA3
基因描述: Homo sapiens ataxin 3 (ATXN3), transcript variant reference, mRNA.
种属: Human
CDS区长度: 1086 (查看编码区序列)
翻译后氨基酸长度: 361 (查看氨基酸序列)
Transcript Variant: This variant (reference, also known as variant 1) encodes the longest isoform (reference isoform, also known as isoform 1).

订购信息

产品编号 产品名称 载体 规格 价格
G106269 人 ATXN3 (NM_004993) cDNA克隆 pDONR223 2ug质粒 点击询价

载体信息

pDONR223载体图谱

相关转录本

人 ATXN3 (NM_001127696) cDNA克隆 transcript variant ad
人 ATXN3 (NM_001164782) cDNA克隆 transcript variant ae
人 ATXN3 (NM_001164774) cDNA克隆 transcript variant b
人 ATXN3 (NM_001164775) cDNA克隆 transcript variant c
人 ATXN3 (NM_001127697) cDNA克隆 transcript variant e
人 ATXN3 (NM_001164776) cDNA克隆 transcript variant g
人 ATXN3 (NM_030660) cDNA克隆 transcript variant h
人 ATXN3 (NM_001164777) cDNA克隆 transcript variant j
人 ATXN3 (NM_001164778) cDNA克隆 transcript variant o
人 ATXN3 (NM_001164779) cDNA克隆 transcript variant r
人 ATXN3 (NM_004993) cDNA克隆 transcript variant reference
人 ATXN3 (NM_001164780) cDNA克隆 transcript variant u
人 ATXN3 (NM_001164781) cDNA克隆 transcript variant y

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]

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