SGCD Polyclonal Antibody

disease:Defects in SGCD are the cause of cardiomyopathy dilated type 1L (CMD1L) [MIM:606685]. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.,disease:Defects in SGCD are the cause of limb-girdle muscular dystrophy type 2F (LGMD2F) [MIM:601287]. LGMD2F 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:SGCD mutations in LGMD2F,PTM:Disulfide bonds are present.,PTM:Glycosylated.,similarity:Belongs to the sarcoglycan beta/delta/gamma/zeta family.,subunit:Interacts with FLNC and DAG1. 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:Most strongly expressed in skeletal and cardiac muscle. Also detected in smooth muscle. Weak expression in brain and lung.,