Epsilon-sarcoglycan is a protein that in humans is encoded by the SGCE gene. 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].
Clinical significance Mutations in the SGCE gene are known to cause myoclonic dystonia (DTY11).
References
Further reading
External links GeneReviews/NIH/NCBI/UW entry on Myoclonus-Dystonia LOVD mutation database: SGCE






