Family

Delta-sarcoglycan (IPR027661)

Short name: SGCD

Family relationships

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 [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].

GO terms

Biological Process

No terms assigned in this category.

Molecular Function

No terms assigned in this category.

Cellular Component

GO:0016021 integral component of membrane
GO:0016012 sarcoglycan complex

Contributing signatures

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