Epsilon-sarcoglycan is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
that in humans is encoded by the ''SGCE''
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.
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.
upplied by OMIM
Clinical significance
Mutations in the SGCE gene are known to cause
Myoclonic dystonia (DTY11).
References
Further reading
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External links
GeneReviews/NIH/NCBI/UW entry on Myoclonus-Dystonia*
LOVD mutation database
SGCE
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