gamma Sarcoglycan Recombinant Rabbit Monoclonal Antibody [JA11-57]

Function

The sarcoglycan transmembrane proteins are members of the dystrophin complex. Sarcoglycans cluster together to form a complex, which is localized in the cell membrane of skeletal, cardiac and smooth muscle fibers. Four sarcoglycan subunit proteins, designated α-, β-, γ- and δ-sarcoglycan, form a complex on the skeletal muscle cell surface membrane. A genetic defect in any one of these proteins causes the loss or marked decrease of the whole sarcoglycan complex, which is observed in the autosomal recessive muscular dystrophy, sarcoglycanopathy. In smooth muscle, β- and δ-sarcoglycans are associated with ε-sarcoglycan, a glycoprotein homologous to α-sarcoglycan. Additionally, a complete deficiency in δ-sarcoglycan is the cause of the Syrian hamster BIO.14 cardiomyopathy.

Background References

1. Van den Bergen JC et al. Clinical characterisation of Becker muscular dystrophy patients predicts favourable outcome in exon-skipping therapy. J Neurol Neurosurg Psychiatry N/A:N/A (2013).

2. Cingolani, E. et al. 2014. Engineered Electrical Conduction Tract Restores Conduction in Complete Heart Block J Am Coll Cardiol.. 64: 2575-2585.

Sequence Similarity

Belongs to the sarcoglycan beta/delta/gamma/zeta family.

Tissue Specificity

Expressed in skeletal and heart muscle.

Subcellular Location

Cell membrane. Cytoplasm.

UNIPROT

SwissProt: Q13326 Human

Synonyms