| Entrez Gene ID |
6445 |
| Official Gene Symbol |
SGCG (GeneCards) |
| Full name |
sarcoglycan gamma |
| Location |
13q12.12 |
| Other ids |
Vega : OTTHUMG00000016563
MIM : 608896
HGNC : HGNC:10809
Ensembl : ENSG00000102683
|
| Other names |
A4,
MAM,
DMDA,
SCG3,
35DAG,
DAGA4,
DMDA1,
LGMD2C,
SCARMD2,
gamma-SG
|
| 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] |