| Primary Identifier | IPR027661 | Type | Family |
| Short Name | SGCD |
| description | 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 []. 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 [, ]. |
