重组核膜含血影蛋白重复蛋白1(Nesp1)

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重组突触核膜蛋白1
Recombinant SYNE1

基因名：

SYNE1

产品别名：

8B； AMC3； AMCM； ARCA1； C6orf98； CPG2； EDMD4； KASH1； MYNE1； Nesp1； SCAR8； dJ45H2.2； SYNE1； spectrin repeat containing nuclear envelope protein 1； spectrin repeat containing nuclear envelope protein 1； nesprin-1； CPG2 full length； KASH domain-containing protein 1； enaptin； myocyte nuclear envelope protein 1； nesprin 1； spectrin repeat containing, nuclear envelope 1； synaptic nuclear envelope protein 1； synaptic nuclei expressed gene 1；核膜含血影蛋白重复蛋白1(Nesp1)；突触核膜蛋白1；

背景信息：

This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia 8, also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]