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Vector Laboratories, Inc.
6737 Mowry Ave
Newark, CA 94560
United States
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Customer Service: (800) 227-6666 / (650) 697-3600
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SGCE
sarcoglycan, epsilon
SGCE is 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.
| Gene Name: | sarcoglycan, epsilon |
| Synonyms: | SGCE, DYT11, Dystonia 11, myoclonic, Epsilon-SG, ESG, Sarcoglycan, epsilon, Epsilon-sarcoglycan |
| Target Sequences: | NM_003919 NP_003910.1 O43556 |
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