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.
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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
Cellular Component: dystroglycan complex; integral to plasma membrane; intercellular junction; lipid raft; sarcoglycan complex; sarcolemma
Biological Process: muscle system process
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