人 ATN1 (NM_001007026) cDNA克隆

Accession: NM_001007026
基因名称: ATN1
基因别名: B37; HRS; NOD; DRPLA; D12S755E
基因描述: Homo sapiens atrophin 1 (ATN1), transcript variant 1, mRNA.
种属: Human
CDS区长度: 3573 (查看编码区序列)
翻译后氨基酸长度: 1190 (查看氨基酸序列)
Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
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G134548 人 ATN1 (NM_001007026) cDNA克隆 pDONR223 2ug质粒 点击询价

Dentatorubral pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder characterized by cerebellar ataxia, myoclonic epilepsy, choreoathetosis, and dementia. The disorder is related to the expansion from 7-23 copies to 49-75 copies of a trinucleotide repeat (CAG/CAA) within this gene. The encoded protein includes a serine repeat and a region of alternating acidic and basic amino acids, as well as the variable glutamine repeat. Alternative splicing results in two transcripts variants that encode the same protein. [provided by RefSeq, Feb 2010]