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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

Target type

Proteins

Molecular weight

32071Da