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. 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. PTM: Disulfide bonds are present By similarity. Sequence similarities: Belongs to the sarcoglycan beta/delta/gamma/zeta family.
Pathway
Arrhythmogenic right ventricular cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy (ARVC); Dilated cardiomyopathy; Hypertrophic cardiomyopathy (HCM)
Citations
Publication ()
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