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  Domain Name: Sarcoglycan_2
Sarcoglycan alpha/epsilon. Sarcoglycans are a subcomplex of transmembrane proteins which are part of the dystrophin-glycoprotein complex. They are expressed in the skeletal, cardiac and smooth muscle. Although numerous studies have been conducted on the sarcoglycan subcomplex in skeletal and cardiac muscle, the manner of the distribution and localisation of these proteins along the nonjunctional sarcolemma is not clear. This family contains alpha and epsilon members.
No pairwise interactions found for the domain Sarcoglycan_2

Total Mutations Found: 17
Total Disease Mutations Found: 10
This domain occurred 2 times on human genes (7 proteins).



  MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D
  MYOCLONUS-DYSTONIA SYNDROME


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for Sarcoglycan_2

















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Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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