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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. Note: This description may include information from UniProtKB.
Protein type: Membrane protein, integral; Motility/polarity/chemotaxis
Chromosomal Location of Human Ortholog: 17q21.33
Cellular Component: cytoplasm; cytoskeleton; dystrophin-associated glycoprotein complex; integral component of membrane; intercellular junction; membrane raft; sarcoglycan complex; sarcolemma
Molecular Function: calcium ion binding; protein binding
Biological Process: muscle contraction; muscle organ development; response to denervation involved in regulation of muscle adaptation; skeletal muscle tissue regeneration
Disease: Muscular Dystrophy, Limb-girdle, Type 2d
Reference #:  Q16586 (UniProtKB)
Alt. Names/Synonyms: 50 kDa dystrophin-associated glycoprotein; 50-DAG; 50DAG; 50kD DAG; A2; Adhalin; ADL; Alpha-sarcoglycan; Alpha-SG; DAG2; DMDA2; Dystroglycan-2; LGMD2D; sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein); SCARMD1; SGCA
Gene Symbols: SGCA
Molecular weight: 42,875 Da
Basal Isoelectric point: 5.5  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

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