SGCE
Epsilon-sarcoglycan is a protein that in humans is encoded by the SGCE gene.[5][6][7]
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]
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