beta-sarcoglycan; beta-SG; 43 kD dystrophin-associated glycoprotein; 43DAG; A3b (SGCB)
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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
- disulfide bonds are present
- cross-link to form 2 major subcomplexes:
- association between SGCB & SGCG is particularly strong
- SGCA is loosely associated with the other sarcoglycans
Structure
- belongs to the sarcoglycan beta/delta/gamma/zeta family
Compartment
- cell membrane, sarcolemma; single-pass type 2 membrane protein (putative)
- cytoplasm, cytoskeleton
Expression
- highest expression in heart & skeletal muscle
- low expression in brain, kidney, placenta, pancreas & lung
- high expression in fetal brain. also found in fetal lung, kidney & liver
Pathology
- defects in SGCB are the cause of limb-girdle muscular dystrophy type 2E
More general terms
Component of
References
- ↑ UniProt http://www.uniprot.org/uniprot/Q16585.html
- ↑ Leiden muscular Dystrophy pages; SGCB mutations in LGMD2E http://www.dmd.nl/sgcb_home.html
- ↑ GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/SGCB
- ↑ Lim LE et al Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12. Nat Genet 11:257-265 1995 PMID: https://www.ncbi.nlm.nih.gov/pubmed/7581448
- ↑ Entrez Gene http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=6443