SGCG

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]

Sarcoglycan Gamma

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.

Biological Process cardiac muscle tissue developmentManual Assertion Based On ExperimentIBA:GO_Central
Biological Process heart contractionManual Assertion Based On ExperimentIBA:GO_Central
Biological Process muscle organ developmentManual Assertion Based On ExperimentTAS:ProtInc

Cell membrane, sarcolemma
Cytoplasm, cytoskeleton

Muscular dystrophy, limb-girdle, autosomal recessive 5 (LGMDR5):
An autosomal recessive degenerative myopathy characterized by rapidly progressive muscle wasting from early childhood with loss of independent ambulation around age 12 years, dystrophic pattern on muscle biopsy, absence of gamma-sarcoglycan and normal dystrophin immunostaining.

Cytoplasmic: 1-37
Helical: 38-58
Extracellular: 59-291