SGCE
Protein-coding gene in the species Homo sapiens
From Wikipedia, the free encyclopedia
Epsilon-sarcoglycan is a protein that in humans is encoded by the SGCE gene.[5][6][7]
External IDsOMIM: 604149; MGI: 1329042; HomoloGene: 31205; GeneCards: SGCE; OMA:SGCE - orthologs
The SGCE gene encodes the epsilon member of the sarcoglycan family, transmembrane components of the dystrophin-glycoprotein complex, which links the cytoskeleton to the extracellular matrix.[supplied by OMIM].[7]
Clinical significance
Mutations in the SGCE gene are known to cause myoclonic dystonia (DTY11).[8]