SGCE
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Template:Short description Template:Cs1 config Template:Infobox gene Epsilon-sarcoglycan is a protein that in humans is encoded by the SGCE gene.[1][2][3]
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].[3]
Clinical significance
Mutations in the SGCE gene are known to cause Myoclonic dystonia (DTY11).[4]
References
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Further reading
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External links
- GeneReviews/NIH/NCBI/UW entry on Myoclonus-Dystonia
- LOVD mutation database: SGCE
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