Pathways & interactions
Short name: Alpha-SG
Overlapping homologous superfamilies
- Sarcoglycan alpha/epsilon (IPR008908)
- Alpha-sarcoglycan (IPR028658)
Alpha-sarcoglycan (also known as adhalin) belongs to the sarcoglycan protein family [PMID: 7937874]. It is required for FGF-dependent myogenic progenitor cell proliferation in mice [PMID: 21903674]. Mutations in the alpha-sarcoglycan gene are linked to autosomal recessive muscular dystrophy [PMID: 8069911, PMID: 7663524].
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:SF16 (PTHR10132:SF16)