Recombinant Human Alpha-sarcoglycan (SGCA), Truncated

Uniprot Id

Q16586

Target Species

Human

Target Name

SGCA

Target Full Name

Alpha-sarcoglycan

Target 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.

Target Involvement

Limb-girdle muscular dystrophy 2D (LGMD2D)

Target Subcellular Location

Cell membrane, sarcolemma; Single-pass type I membrane protein. Cytoplasm, cytoskeleton.

Target Protein Families

Sarcoglycan alpha/epsilon family

Target Tissue Specificity

Most strongly expressed in skeletal muscle. Also expressed in cardiac muscle and, at much lower levels, in lung. In the fetus, most abundant in cardiac muscle and, at lower levels, in lung. Also detected in liver and kidney. Not expressed in brain.

Target Synonyms

50 DAG; 50 kDa dystrophin associated glycoprotein; 50 kDa dystrophin-associated glycoprotein; 50DAG; 50kD DAG; 59kDa; A2; adhalin; ADL; Alpha SG; Alpha-sarcoglycan; Alpha-SG; Asg; DAG2; DMDA2; Dystroglycan 2; Dystroglycan-2; LGMD2D; sarcoglycan, alpha (dystrophin-associated glycoprotein); SCARMD1 ; Sgca; SGCA_HUMAN

Target Background

This gene encodes a component of the dystrophin-glycoprotein complex (DGC), which is critical to the stability of muscle fiber membranes and to the linking of the actin cytoskeleton to the extracellular matrix. Its expression is thought to be restricted to striated muscle. Mutations in this gene result in type 2D autosomal recessive limb-girdle muscular dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene.