人 EPM2A (NM_001018041) cDNA克隆

基本信息

Accession: NM_001018041
基因名称: EPM2A
基因别名: EPM2; MELF
基因描述: Homo sapiens epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) (EPM2A), transcript variant 2, mRNA.
种属: Human
CDS区长度: 954 (查看编码区序列)
翻译后氨基酸长度: 317 (查看氨基酸序列)
Transcript Variant: This variant (2) lacks a segment of the coding region compared to variant 1. The resulting isoform (b), also known as C-terISO, contains a shorter and distinct C-terminus compared to isoform a. Isoform b has been localized to the nucleus.

订购信息

产品编号 产品名称 载体 规格 价格
G102778 人 EPM2A (NM_001018041) 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 EPM2A (NM_005670) cDNA克隆 transcript variant 1
人 EPM2A (NM_001018041) cDNA克隆 transcript variant 2

基因简介

This gene encodes a dual-specificity phosphatase that associates with polyribosomes. The encoded protein may be involved in the regulation of glycogen metabolism. Mutations in this gene have been associated with myoclonic epilepsy of Lafora. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]

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