Epsilon-sarcoglycan is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, res ...
that in humans is encoded by the ''SGCE''
gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
.
The SGCE gene encodes the epsilon member of the
sarcoglycan
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 to the muscle fibre sarcolemma t ...
family, transmembrane components of the
dystrophin-glycoprotein complex
The costamere is a structural-functional component of striated muscle cells which connects the sarcomere of the muscle to the cell membrane (i.e. the sarcolemma).20: 2327-2331
Costameres are sub-sarcolemmal protein assemblies circumferentially a ...
, which links the cytoskeleton to the extracellular matrix.
upplied by OMIMref name="entrez"/>
See also
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Myoclonic dystonia
References
Further reading
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External links
GeneReviews/NIH/NCBI/UW entry on Myoclonus-Dystonia*
LOVD The Leiden Open Variation Database (LOVD) is a free, flexible web-based open source database developed in the Leiden University Medical Center in the Netherlands, designed to collect and display variants in the DNA sequence. The focus of an LOVD i ...
mutation database
SGCE
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