SGCB
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 4
LGMDR4
An autosomal recessive degenerative myopathy characterized by pelvic and shoulder muscle wasting, onset usually in childhood and variable progression rate.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Disulfide bonds are present.
Sequence Similarities
Belongs to the sarcoglycan beta/delta/gamma/zeta family.
Tissue Specificity
Highest expression in heart and skeletal muscle. Low expression in brain, kidney, placenta, pancreas and lung. High expression in fetal brain. Also found in fetal lung, kidney and liver.
Cellular localization
- Cell membrane
- Sarcolemma
- Single-pass type II membrane protein
- Cytoplasm
- Cytoskeleton
Alternative names
Beta-sarcoglycan, Beta-SG, 43 kDa dystrophin-associated glycoprotein, A3b, 43DAG, SGCB