Sarcoglycan Delta (SGCD) Human Recombinant Protein

The protein encoded by this gene is one of the four known components of the sarcoglycan complex, which is a subcomplex of the dystrophin-glycoprotein complex (DGC). DGC forms a link between the F-actin cytoskeleton and the extracellular matrix. This protein is expressed most abundantly in skeletal and cardiac muscle. Mutations in this gene have been associated with autosomal recessive limb-girdle muscular dystrophy and dilated cardiomyopathy. Alternatively spliced transcript variants encoding distinct isoforms have been observed for this gene. [provided by RefSeq, Jul 2008]

SGCD: 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. Defects in SGCD are the cause of limb-girdle muscular dystrophy type 2F (LGMD2F). LGMD2F is an autosomal recessive disorder. Defects in SGCD are the cause of cardiomyopathy dilated type 1L (CMD1L). 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. Belongs to the sarcoglycan beta/delta/gamma/zeta family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral; Dystrophin complex

Chromosomal Location of Human Ortholog: 5q33-q34

Cellular Component: dystrophin-associated glycoprotein complex; cytoskeleton; cytoplasm; plasma membrane; integral to membrane; sarcoglycan complex; sarcolemma

Biological Process: cardiac muscle development; muscle development; heart contraction; muscle cell development

Disease: Muscular Dystrophy, Limb-girdle, Type 2f; Cardiomyopathy, Dilated, 1l