BC025702
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
29,354 Da
NCBI Official Full Name
Homo sapiens sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein), mRNA
NCBI Official Synonym Full Names
sarcoglycan alpha
NCBI Official Synonym Symbols
ADL; DAG2; 50DAG; DMDA2; LGMD2D; SCARMD1; adhalin [Similar Products]
NCBI Protein Information
alpha-sarcoglycan
UniProt Protein Name
Alpha-sarcoglycan
UniProt Synonym Protein Names
50 kDa dystrophin-associated glycoprotein; 50DAG; Adhalin; Dystroglycan-2
UniProt Synonym Gene Names
UniProt Entry Name
SGCA_HUMAN
NCBI Summary for SGCA
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]
UniProt Comments for SGCA
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; sarcoglycan complex
Molecular Function: protein binding
Biological Process: muscle contraction; muscle development
Disease: Muscular Dystrophy, Limb-girdle, Type 2d
Research Articles on SGCA
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Pathways associated with SGCA cdna clone
Diseases associated with SGCA cdna clone
Organs/Tissues associated with SGCA cdna clone
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