Aliases for SGCA Gene
External Ids for SGCA Gene
Previous HGNC Symbols for SGCA Gene
Previous GeneCards Identifiers for SGCA Gene
This gene encodes a component of the dystrophin-glycoprotein complex (DGC), which is critical to the stability of muscle fiber membranes and to the linking of the actin cytoskeleton to the extracellular matrix. Its expression is thought to be restricted to striated muscle. Mutations in this gene result in type 2D autosomal recessive limb-girdle muscular dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
GeneCards Summary for SGCA Gene
SGCA (Sarcoglycan Alpha) is a Protein Coding gene. Diseases associated with SGCA include Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 and Qualitative Or Quantitative Defects Of Sarcoglycan. Among its related pathways are Dilated cardiomyopathy (DCM) and Arrhythmogenic right ventricular cardiomyopathy (ARVC). Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is SGCE.
UniProtKB/Swiss-Prot Summary for SGCA Gene
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.