Aliases for SGCE Gene
External Ids for SGCE Gene
Previous HGNC Symbols for SGCE Gene
Previous GeneCards Identifiers for SGCE Gene
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]
GeneCards Summary for SGCE Gene
SGCE (Sarcoglycan Epsilon) is a Protein Coding gene. Diseases associated with SGCE include Dystonia-11, Myoclonic and Dystonia. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is SGCA.
UniProtKB/Swiss-Prot for SGCE Gene
Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix.