alpha-sarcoglycan; alpha-SG; adhalin; 50 kD dystrophin-associated glycoprotein; 50DAG; dystroglycan-2 (SGCA, ADL, DAG2)
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Function
- component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton & the extracellular matrix
- interacts with the syntrophin SNTA1
- cross-link to form 2 major subcomplexes:
- association between SGCB & SGCG is particularly strong while SGCA is loosely associated with the other sarcoglycans (putative)
Structure
belongs to the sarcoglycan alpha/epsilon family
Compartment
- cell membrane, sarcolemma
- single-pass type1 membrane protein (putative)
- cytoplasm, cytoskeleton
Alternative splicing
named isoforms=2; SGCA-1, SGCA-2
Expression
- most strongly expressed in skeletal muscle
- also expressed in cardiac muscle &, at much lower levels, in lung
- in the fetus, most abundant in cardiac muscle &, at lower levels, in lung
- also detected in liver & kidney
- not expressed in brain
Pathology
- defects in SGCA are the cause of limb-girdle muscular dystrophy type 2D
More general terms
Component of
References
- ↑ UniProt http://www.uniprot.org/uniprot/Q16586.html
- ↑ Leiden muscular Dystrophy pages; SGCA mutations in LGMD2D http://www.dmd.nl/sgca_home.html
- ↑ GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/SGCA
- ↑ Roberds SL et al Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. Cell 78:625-33 1994 PMID: https://www.ncbi.nlm.nih.gov/pubmed/8069911
- ↑ Entrez Gene http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=6442