SGCE
Function
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.
Involvement in disease
Dystonia 11, myoclonic
DYT11
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
N-glycosylated.
Ubiquitinated, leading to its degradation by the proteasome.
Sequence Similarities
Belongs to the sarcoglycan alpha/epsilon family.
Tissue Specificity
Ubiquitous.
Cellular localization
- Cell membrane
- Sarcolemma
- Single-pass membrane protein
- Cytoplasm
- Cytoskeleton
- Cell projection
- Dendrite
- Golgi apparatus
Alternative names
ESG, UNQ433/PRO840, SGCE, Epsilon-sarcoglycan, Epsilon-SG