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Protein Page:
SGCE (human)

Overview
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.
Protein type: Cell adhesion; Membrane protein, integral
Chromosomal Location of Human Ortholog: 7q21.3
Cellular Component: dystrophin-associated glycoprotein complex; Golgi apparatus; integral to plasma membrane; plasma membrane
Biological Process: cell-matrix adhesion; muscle development; muscle system process
Disease: Myoclonic Dystonia
Reference #:  O43556 (UniProtKB)
Alt. Names/Synonyms: dystonia 11, myoclonic; DYT11; Epsilon-sarcoglycan; Epsilon-SG; ESG; sarcoglycan, epsilon; SGCE
Gene Symbols: SGCE
Molecular weight: 49,851 Da
Basal Isoelectric point: 6.12  Predict pI for various phosphorylation states
Select Structure to View Below

SGCE

Protein Structure Not Found.


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