人 ATXN10 (NM_001167621) cDNA克隆

Accession: NM_001167621
基因名称: ATXN10
基因别名: E46L; SCA10; HUMEEP
基因描述: Homo sapiens ataxin 10 (ATXN10), transcript variant 2, mRNA.
种属: Human
CDS区长度: 1236 (查看编码区序列)
翻译后氨基酸长度: 411 (查看氨基酸序列)
Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
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G111441 人 ATXN10 (NM_001167621) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes a protein that may function in neuron survival, neuron differentiation, and neuritogenesis. These roles may be carried out via activation of the mitogen-activated protein kinase cascade. Expansion of a pentanucleotide repeat in an intronic region of this locus has been associated with spinocerebellar ataxia, type 10. Alternatively spliced transcript variants have been described.[provided by RefSeq, Nov 2009]