Family

Epsilon-sarcoglycan (IPR030775)

Short name: SGCE

Family relationships

Description

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].

GO terms

Biological Process

No terms assigned in this category.

Molecular Function

No terms assigned in this category.

Cellular Component

GO:0016020 membrane
GO:0016012 sarcoglycan complex

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
PANTHER