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Search results 1 to 1 out of 1 for Sgcd

Category restricted to ProteinDomain (x)

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Categories

Category: ProteinDomain
Type Details Score
Protein Domain
Type: Family
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 [, ].