Synonyms:35DAG, A4, DAGA4, DMDA, DMDA1, ENTREZ:6445, HGNC:10809, LGMD2C, LGMDR5, MAM, MIM:608896, NM_000231, NM_001378244, NM_001378245, NM_001378246, NP_000222, NP_001365173, NP_001365174, NP_001365175, SCARMD2, SCG3, SGCG, gamma-SG, sarcoglycan gamma
Omim:OMIM:608896
Id:ENSG00000102683
Hgnc:HGNC:10809
Description:sarcoglycan gamma
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]