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