Pathways & interactions
Short name: SGCE
Overlapping homologous superfamilies
- Sarcoglycan alpha/epsilon (IPR008908)
- Epsilon-sarcoglycan (IPR030775)
Epsilon-sarcoglycan (SGCE) is a member of the sarcoglycan protein family [PMID: 12325078]. Mutations in the SGCE gene cause myoclonus-dystonia syndrome [PMID: 12325078]. The SGCE gene is maternally imprinted in matUPD7 lymphoblastoid cell lines and in leukocytes of myoclonus-dystonia syndrome patients [PMID: 12634861].
The sarcoglycan family proteins are single pass transmembrane proteins that are part of the dystrophin-associated glycoprotein complex (DGC), a multiprotein complex that links the actin cytoskeleton to the extracellular matrix in cardiac and skeletal muscle [PMID: 11917091]. The DGC can be classified biochemically into three subcomplexes: the cytoplasmic subcomplex (contains dystrophin, the dystrobrevins and the syntrophins), the dystroglycan subcomplex and the sarcoglycan subcomplex. The function of the sarcoglycan subcomplex is not clear. However, mutations in alpha-, beta-, gamma- and delta-sarcoglycan cause different forms of autosomal recessive limb girdle muscular dystrophies (LGMD) demonstrating its importance for normal muscle function [PMID: 17200151].
- PTHR10132:SF17 (PTHR10132:SF17)