Entrez Summary: This gene encodes gamma-sarcoglycan, one of several sarcolemmal transmembrane glycoproteins that interact with dystrophin. The dystrophin-glycoprotein complex (DGC) spans the sarcolemma and is comprised of dystrophin, syntrophin, alpha- and beta-dystroglycans and sarcoglycans. The DGC provides a structural link between the subsarcolemmal cytoskeleton and the extracellular matrix of muscle cells. Defects in the encoded protein can lead to early onset autosomal recessive muscular dystrophy, in particular limb-girdle muscular dystrophy, type 2C (LGMD2C). [provided by RefSeq, Oct 2008].
UniProt Summary: 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.
Pfam DomainsGO Terms
Pfam Domains
Sarcoglycan 1
GO Terms
sarcoglycan complex
heart contraction
sarcolemma
heart process
cardiac muscle tissue development
striated muscle tissue development
muscle organ development
muscle tissue development
cytoskeleton
blood circulation
circulatory system process
muscle structure development
heart development
circulatory system development
tissue development
system process
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)