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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| SYNE1-20-RE | 20 (40 μL) | 200 μL |  |
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| SYNE1-20-OR | 20 (40 μL) | 200 μL |  |
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| SYNE1-20-GO | 20 (40 μL) | 200 μL |  |
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| SYNE1-20-GR | 20 (40 μL) | 200 μL |  |
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| SYNE1-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : SYNE1
Gene Name : Spectrin repeat containing nuclear envelope protein 1
Chromosome : CHR 6: 152,637,398-152,121,683
Locus : 6q25.2
Alt. Genes : ZNF263
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