人 ATXN10 (NM_013236) cDNA克隆

Accession: NM_013236
基因名称: ATXN10
基因别名: E46L; SCA10; HUMEEP
基因描述: Homo sapiens ataxin 10 (ATXN10), transcript variant 1, mRNA.
种属: Human
CDS区长度: 1428 (查看编码区序列)
翻译后氨基酸长度: 475 (查看氨基酸序列)
Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
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G111442 人 ATXN10 (NM_013236) 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]