Kalpana Kalpana (Editor)

Syncoilin

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Symbol
  
SYNC1

HUGO
  
28897

RefSeq
  
NM_030786

Entrez
  
81493

OMIM
  
611750

UniProt
  
Q9H7C4

Syncoilin is a muscle-specific intermediate filament, first isolated as a binding partner to α-dystrobrevin, as determined by a yeast two-hybrid assay.

Later, a yeast two-hybrid method was used to demonstrate that syncoilin is a binding partner of desmin. These binding partners suggest that syncoilin acts as a mechanical "linker" between the sarcomere Z-disk (where desmin is localized) and the dystrophin-associated protein complex (where α-dystrobrevin is localized). However, the specific in vivo functions of syncoilin have not yet been determined.

Abnormally high levels of syncoilin have been shown to be a characteristic of neuromuscular wasting diseases, such as desminopathy and muscular dystrophy. Therefore, syncoilin is being explored as a promising marker of neuromuscular disease.

References

Syncoilin Wikipedia