功能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.
组织特异性Most strongly expressed in skeletal and cardiac muscle. Also detected in smooth muscle. Weak expression in brain and lung.
疾病相关Defects in SGCD are the cause of limb-girdle muscular dystrophy type 2F (LGMD2F) [MIM:601287]. LGMD2F is an autosomal recessive disorder. 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.
序列相似性Belongs to the sarcoglycan beta/delta/gamma/zeta family.