SGCA
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 3
LGMDR3
An autosomal recessive degenerative myopathy characterized by progressive muscle wasting from early childhood with loss of independent ambulation by teenage years. Muscle biopsy shows necrosis, decreased immunostaining for alpha sarcoglycan, and adhalin deficiency.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the sarcoglycan alpha/epsilon family.
Tissue Specificity
Most strongly expressed in skeletal muscle. Also expressed in cardiac muscle and, at much lower levels, in lung. In the fetus, most abundant in cardiac muscle and, at lower levels, in lung. Also detected in liver and kidney. Not expressed in brain.
Cellular localization
- Cell membrane
- Sarcolemma
- Single-pass type I membrane protein
- Cytoplasm
- Cytoskeleton
Alternative names
ADL, DAG2, SGCA, Alpha-sarcoglycan, Alpha-SG, 50 kDa dystrophin-associated glycoprotein, Adhalin, Dystroglycan-2, 50DAG