This gene encodes the epsilon member of the sarcoglycan family. Sarcoglycans are transmembrane proteins that are components of the dystrophin-glycoprotein complex, which link the actin cytoskeleton to the extracellular matrix. Unlike other family members which are predominantly expressed in striated muscle, the epsilon sarcoglycan is more broadly expressed. Mutations in this gene are associated with myoclonus-dystonia syndrome. This gene is imprinted, with preferential expression from the paternal allele. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A pseudogene associated with this gene is located on chromosome 2. [provided by RefSeq, Oct 2016]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| SGCE-20-RE | 20 (40 μL) | 200 μL |  |
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| SGCE-20-OR | 20 (40 μL) | 200 μL |  |
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| SGCE-20-GO | 20 (40 μL) | 200 μL |  |
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| SGCE-20-GR | 20 (40 μL) | 200 μL |  |
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| SGCE-20-AQ | 20 (40 μL) | 200 μL |  |
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This gene encodes the epsilon member of the sarcoglycan family. Sarcoglycans are transmembrane proteins that are components of the dystrophin-glycoprotein complex, which link the actin cytoskeleton to the extracellular matrix. Unlike other family members which are predominantly expressed in striated muscle, the epsilon sarcoglycan is more broadly expressed. Mutations in this gene are associated with myoclonus-dystonia syndrome. This gene is imprinted, with preferential expression from the paternal allele. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A pseudogene associated with this gene is located on chromosome 2. [provided by RefSeq, Oct 2016]
Gene Symbol : SGCE
Gene Name : Sarcoglycan epsilon
Chromosome : CHR 7: 946,562,08-945,852,23
Locus : 7q21.3
Alt. Genes : RAD50
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