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SGCE
Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix. Defects in SGCE are a cause of dystonia type 11 (DYT11); also known as myoclonic dystonia or alcohol- responsive dystonia. DYT11 is a myoclonic dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT11 is characterized by involuntary lightning jerks and dystonic movements and postures alleviated by alcohol. Inheritance is autosomal dominant. The age of onset, pattern of body involvement, presence of myoclonus and response to alcohol are all variable. Belongs to the sarcoglycan alpha/epsilon family. Note: This description may include information from UniProtKB.
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| Protein type: Membrane protein, integral; Cell adhesion |
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Cellular Component: dystrophin-associated glycoprotein complex; cytoskeleton; integral to plasma membrane; cytoplasm; sarcoglycan complex; sarcolemma
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Molecular Function: calcium ion binding
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Biological Process: muscle development; cell-matrix adhesion
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Reference #:
NP_001092871 (RefSeq)
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| Alt. Names/Synonyms: dystonia 11, myoclonic; DYT11; Epsilon-sarcoglycan; Epsilon-SG; ESG; sarcoglycan, epsilon; SGCE |
| Gene Symbols: SGCE |
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Molecular weight: 52,525 Da
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Basal Isoelectric point: 6.12
Predict pI for various phosphorylation states
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