NEXT >>
RESULTS [1 .. 51]
From Wikipedia, the free encyclopedia
Jump to: navigation, search
syncoilin
Identifiers
Symbol SYNC1
Entrez 81493
HUGO 28897
OMIM 611750
RefSeq NM_030786
UniProt Q9H7C4
Other data
Locus Chr. 1 p35.1-p33

Syncoilin is a muscle-specific intermediate filament, first isolated as a binding partner to α-dystrobrevin, as determined by a yeast two-hybrid assay.[1]

Later, a yeast two-hybrid method was used to demonstrate that syncoilin is a binding partner of desmin.[2] 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[3] and muscular dystrophy.[4] Therefore, syncoilin is being explored as a promising marker of neuromuscular disease.

References[edit]

  1. ^ Newey SE, Howman EV, Ponting CP, Benson MA, Nawrotzki R, Loh NY, Davies KE, Blake DJ (March 2001). "Syncoilin, a novel member of the intermediate filament superfamily that interacts with alpha-dystrobrevin in skeletal muscle". J. Biol. Chem. 276 (9): 6645–55. doi:10.1074/jbc.M008305200. PMID 11053421. 
  2. ^ Poon E, Howman EV, Newey SE, Davies KE (February 2002). "Association of syncoilin and desmin: linking intermediate filament proteins to the dystrophin-associated protein complex". J. Biol. Chem. 277 (5): 3433–9. doi:10.1074/jbc.M105273200. PMID 11694502. 
  3. ^ Howman EV, Sullivan N, Poon EP, Britton JE, Hilton-Jones D, Davies KE (January 2003). "Syncoilin accumulation in two patients with desmin-related myopathy". Neuromuscul. Disord. 13 (1): 42–8. doi:10.1016/S0960-8966(02)00181-5. PMID 12467731. 
  4. ^ Brown SC, Torelli S, Ugo I, De Biasia F, Howman EV, Poon E, Britton J, Davies KE, Muntoni F (December 2005). "Syncoilin upregulation in muscle of patients with neuromuscular disease". Muscle Nerve 32 (6): 715–25. doi:10.1002/mus.20431. PMID 16124004. 

External links[edit]

Wikipedia content is licensed under the GFDL License
Powered by YouTube
LEGAL
  • Mashpedia © 2014