| Epsilon-Sarcoglycan (SGCE) | |
|---|---|
| Protein Name | Epsilon-Sarcoglycan |
| Gene | 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.
Zimprich A, Grabowski M, Asmus F, Naumann M, Berg D, Bertram H, Scheidtmann K, Kern P, Winkelmann J, Muller-Myhsok B, Riedel L, Bauer M, Muller T, Castro M, Meitinger T, Strom TM, Gasser T. "Mutations in the gene encoding epsilon-sarcoglycan cause Myoclonus-Dystonia syndrome." Nature Genetics. 2001;28(2):171-174.
Nishioka H, Tooyama I, Kimura H, Kushiya E, Miyamoto M, Hisano S, Eda M, Yanagihara T, Uemura K, Sasaki K. "Region-specific expression of sarcoglycan in the mouse brain." Neuroscience Letters. 2005;378(1):13-17.
Kumanogoh A, Kikutani H. "The CD100-CD72 interaction: a novel immune regulatory pathway." Trends in Immunology. 2003;24(6):307-310.
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