| Epsilon-Sarcoglycan (SGCE) | |
|---|---|
| Protein Name | Epsilon-Sarcoglycan |
| Gene | [SGCE](/genes/sgce) |
| UniProt | Q9UHI5 |
| Molecular Weight | ~50 kDa |
| Subcellular Localization | Plasma membrane |
| Protein Family | Sarcoglycan family |
| PDB Structures | Not determined |
Epsilon-Sarcoglycan is a protein encoded by the SGCE gene that belongs to the sarcoglycan family of transmembrane proteins. While primarily studied in the context of muscular dystrophies, epsilon-sarcoglycan is also expressed in the brain and has been implicated in neurodegenerative diseases, particularly Myoclonus-Dystonia syndrome and Parkinson's disease [1].
Epsilon-Sarcoglycan is a single-pass transmembrane protein that is part of the dystrophin-associated glycoprotein complex (DGC). In muscle, it forms a complex with other sarcoglycans (alpha, beta, gamma, delta) to provide structural stability to the sarcolemma. In the brain, epsilon-sarcoglycan is expressed in various regions including the cerebellum, basal ganglia, and cerebral cortex, where it is thought to play roles in synaptic function and neuronal signaling [2].
Epsilon-sarcoglycan contains:
The protein undergoes N-linked glycosylation, which is important for its proper folding and localization to the plasma membrane.
In skeletal muscle, epsilon-sarcoglycan:
In the central nervous system, epsilon-sarcoglycan:
Mutations in SGCE cause autosomal dominant Myoclonus-Dystonia:
Epsilon-sarcoglycan has been implicated in PD:
Some SGCE mutations cause limb-girdle muscular dystrophy type 2D (LGMDR5), though this is less common than the neurological manifestations.
Zimprich et al., Mutations in SGCE cause Myoclonus-Dystonia. Nature Genetics, 2001.
Nishioka et al., Epsilon-sarcoglycan in the brain. Journal of Neurochemistry, 2005.
Kurian et al., SGCE and Parkinson's disease. Movement Disorders, 2011.