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.
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.
Disulfide bonds are present.
Belongs to the sarcoglycan beta/delta/gamma/zeta family.
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.
Beta-sarcoglycan, Beta-SG, 43 kDa dystrophin-associated glycoprotein, A3b, 43DAG, SGCB
Proteins
34777Da
We found 5 products in 2 categories
ab135954