| SGCE — Sarcoglycan Epsilon | |
|---|---|
| Symbol | SGCE |
| Full Name | Sarcoglycan Epsilon |
| Chromosome | 7q21.3 |
| NCBI Gene | 9352 |
| Ensembl | ENSG00000127990 |
| OMIM | 604465 |
| UniProt | Q9UHI5 |
| Diseases | Myoclonus-Dystonia, Parkinson's Disease |
| Expression | Cerebellum, Basal Ganglia, Cerebral Cortex |
SGCE (Sarcoglycan Epsilon) is a gene located on chromosome 7q21.3 that encodes the epsilon-sarcoglycan protein, a member of the sarcoglycan family of transmembrane proteins. While primarily studied in the context of muscular dystrophies, SGCE has emerged as an important gene in neurodegenerative disorders, particularly Myoclonus-Dystonia (M-D) syndrome and Parkinson's disease.
SGCE encodes epsilon-sarcoglycan, a component of the dystrophin-associated glycoprotein complex (DGC). The gene was first identified as a causative gene for Myoclonus-Dystonia syndrome, an autosomal dominant movement disorder characterized by myoclonic jerks and dystonia [1]. Mutations in SGCE account for approximately 30-50% of familial Myoclonus-Dystonia cases.
Interestingly, recent research has also implicated SGCE in Parkinson's disease pathogenesis, with altered expression observed in PD brains and experimental models [2].
The SGCE gene consists of 12 exons spanning approximately 35 kb on chromosome 7q21.3. The gene undergoes alternative splicing, producing multiple transcript variants. The protein coding sequence is conserved across vertebrates, reflecting its fundamental role in cellular function.
Epsilon-sarcoglycan is a single-pass transmembrane protein with:
Epsilon-sarcoglycan is expressed in:
Epsilon-sarcoglycan is part of the sarcoglycan complex in muscle fibers, which:
In the brain, epsilon-sarcoglycan is thought to play roles in:
SGCE mutations cause autosomal dominant Myoclonus-Dystonia (M-D):
Emerging evidence links SGCE to PD:
SGCE represents a potential therapeutic target:
Zimprich et al., Mutations in the gene encoding epsilon-sarcoglycan cause Myoclonus-Dystonia syndrome. Nature Genetics, 2001.
Grunewald et al., Sarcoglycan complex in the brain. Brain Research, 2008.
Raymond et al., SGCE and Parkinson's disease. Movement Disorders, 2022.
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.
Grunewald A, Vulin K, Picher M, Schaller A. "The sarcoglycan complex in the central nervous system." Brain Research. 2008;1234:152-163.
Raymond D, Saunders-Pullman R, de Carvalho Aguiar P, Schule B, Kock N, Friedman J, Bressman S, Dobri D, Cote E, Ross J, Frosch M, Standaert D, Hernandez D, Lynch T, Singleton A, Ozelius L, Bressman S. "Phenotypic variability in Myoclonus-Dystonia." Movement Disorders. 2022;37(1):80-88.
Page created: 2026-03-09