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.
Gene names and symbols associated with Sarcoglycan, epsilon Proteins (SGCE)
sarcoglycan, epsilon (sgce) antibody
sarcoglycan epsilon S homeolog (sgce.S) antibody
sarcoglycan epsilon (SGCE) antibody
sarcoglycan, epsilon (Sgce) antibody
Protein level used designations for Sarcoglycan, epsilon Proteins (SGCE)