Sarcoglycan Epsilon (SGCe)

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.Mutations in this gene have been associated with myoclonus-dystonia syndrome. Alternative splicing results in multiple transcript variants. The sarcoglycans are a family of transmembrane proteins (α, β, γ, δ or ε) involved in the protein complex responsible for connecting the muscle fibre cytoskeleton to the extracellular matrix, preventing damage the muscle fibre sarcolemma through shearing forces.Mutations in the α, β, γ or δ genes (not ε) encoding these proteins can lead to the associated limb-girdle muscular dystrophy.