Pathways & interactions
Short name: SGCD
Overlapping homologous superfamilies
- Sarcoglycan complex subunit protein (IPR006875)
- Delta-sarcoglycan (IPR027661)
Delta-sarcoglycan (SGCD) is a component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix [PMID: 9864373]. Defects in SGCD are the cause of cardiomyopathy, an autosomal recessive disease which is characterised by progressive myocardial necrosis and heart failure leading to premature death. In these cases, a large portion of the 5'-end of the gene, including the first exon, is deleted and an alternative promoter and first exon are used [PMID: 9391120, PMID: 9097966].
- PTHR12939:SF6 (PTHR12939:SF6)