Sarcoglycan, Alpha (SGCA) Antibody – Rabbit Polyclonal

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. [provided by RefSeq, Oct 2008]

SGCA: 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 SGCA are the cause of limb-girdle muscular dystrophy type 2D (LGMD2D); also known as Duchenne- like muscular dystrophy autosomal recessive type 2 or severe childhood autosomal recessive muscular dystrophy (SCARMD). LGMD2D is an autosomal recessive degenerative myopathy characterized by progressive muscle wasting from early childhood with loss of independent ambulation by teenage years. Muscle biopsy shows necrosis, decreased immunostaining for alpha sarcoglycan, and adhalin deficiency. The phenotype is less severe than LGMD2C. Belongs to the sarcoglycan alpha/epsilon family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral; Motility/polarity/chemotaxis

Chromosomal Location of Human Ortholog: 17q21

Cellular Component: dystrophin-associated glycoprotein complex; cytoskeleton; cytoplasm; integral to membrane; sarcoglycan complex; intercellular junction; sarcolemma; lipid raft

Molecular Function: calcium ion binding

Biological Process: muscle development; muscle contraction

Disease: Muscular Dystrophy, Limb-girdle, Type 2d