SGCD

The protein encoded by this gene is one of the four known components of the sarcoglycan complex, which is a subcomplex of the dystrophin-glycoprotein complex (DGC). DGC forms a link between the F-actin cytoskeleton and the extracellular matrix. This protein is expressed most abundantly in skeletal and cardiac muscle. Mutations in this gene have been associated with autosomal recessive limb-girdle muscular dystrophy and dilated cardiomyopathy. Alternatively spliced transcript variants encoding distinct isoforms have been observed for this gene. [provided by RefSeq]

Full Name

sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)

Function

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

Biological Process calcium ion homeostasisIEA:Ensembl
Biological Process calcium-mediated signalingIEA:Ensembl
Biological Process cardiac muscle cell contractionIEA:Ensembl
Biological Process cardiac muscle cell developmentIEA:Ensembl
Biological Process cardiac muscle tissue developmentManual Assertion Based On ExperimentIBA:GO_Central
Biological Process coronary vasculature morphogenesisIEA:Ensembl
Biological Process heart contractionManual Assertion Based On ExperimentIBA:GO_Central
Biological Process muscle organ developmentManual Assertion Based On ExperimentTAS:ProtInc
Biological Process protein-containing complex localizationIEA:Ensembl

Cellular Location

Cell membrane, sarcolemma
Cytoplasm, cytoskeleton

Involvement in disease

Muscular dystrophy, limb-girdle, autosomal recessive 6 (LGMDR6):
An autosomal recessive degenerative myopathy initially affecting the proximal limb girdle musculature. Muscle from patients shows a complete loss of delta-sarcoglycan as well as of the others components of the sarcoglycan complex.
Cardiomyopathy, dilated 1L (CMD1L):
A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

Topology

Cytoplasmic: 1-35
Helical: 36-56
Extracellular: 57-289

PTM

Glycosylated.
Disulfide bonds are present.