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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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PLEASE NOTE

For RESEARCH USE ONLY. Intended for use by laboratory professionals. Not intended for human diagnostic or therapeutic purposes.

The data on this page has been compiled from LifeSpan internal sources, the National Center for Biotechnology Information (NCBI), and The Universal Protein Resource (UniProt).