Delta-sarcoglycan
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.
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.
None
The disease is caused by variants affecting the gene represented in this entry.
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Glycosylated.
Disulfide bonds are present.
Sequence Similarities
Belongs to the sarcoglycan beta/delta/gamma/zeta family.
Tissue Specificity
Most strongly expressed in skeletal and cardiac muscle. Also detected in smooth muscle. Weak expression in brain and lung.
Cellular localization
- Cell membrane
- Sarcolemma
- Single-pass type II membrane protein
- Cytoplasm
- Cytoskeleton
Alternative names
Delta-sarcoglycan, Delta-SG, 35 kDa dystrophin-associated glycoprotein, 35DAG, SGCD