Summary
Performance
Immunogen
Application
Background
This gene encodes a member of the sarcoglycan family. Sarcoglycans are transmembrane components in the dystrophin-glycoprotein complex which help stabilize the muscle fiber membranes and link the muscle cytoskeleton to the extracellular matrix. Mutations in this gene have been associated with limb-girdle muscular dystrophy.[provided by RefSeq, Oct 2008],disease:Defects in SGCB are the cause of limb-girdle muscular dystrophy type 2E (LGMD2E) [MIM:604286]. LGMD2E is an autosomal recessive disorder.,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.,online information:SGCB mutations in LGMD2E,PTM:Disulfide bonds are present.,similarity:Belongs to the sarcoglycan beta/delta/gamma/zeta family.,subunit:Cross-link to form 2 major subcomplexes: one consisting of SGCB, SGCD and SGCG and the other consisting of SGCB and SGCD. The association between SGCB and SGCG is particularly strong while SGCA is loosely associated with the other sarcoglycans.,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.,
Research Area
Hypertrophic cardiomyopathy (HCM);Arrhythmogenic right ventricular cardiomyopathy (ARVC);Dilated cardiomyopathy;Viral myocarditis;
