Syncoilin: Difference between revisions
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Revision as of 06:23, 17 March 2013
| syncoilin | |||||||
|---|---|---|---|---|---|---|---|
| Identifiers | |||||||
| Symbol | SYNC1 | ||||||
| NCBI gene | 81493 | ||||||
| HGNC | 28897 | ||||||
| OMIM | 611750 | ||||||
| RefSeq | NM_030786 | ||||||
| UniProt | Q9H7C4 | ||||||
| Other data | |||||||
| Locus | Chr. 1 p35.1-p33 | ||||||
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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
- ^ Newey SE, Howman EV, Ponting CP, Benson MA, Nawrotzki R, Loh NY, Davies KE, Blake DJ (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.
{{cite journal}}: Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) CS1 maint: unflagged free DOI (link) - ^ Poon E, Howman EV, Newey SE, Davies KE (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.
{{cite journal}}: Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) CS1 maint: unflagged free DOI (link) - ^ Howman EV, Sullivan N, Poon EP, Britton JE, Hilton-Jones D, Davies KE (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.
{{cite journal}}: Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) - ^ Brown SC, Torelli S, Ugo I, De Biasia F, Howman EV, Poon E, Britton J, Davies KE, Muntoni F (2005). "Syncoilin upregulation in muscle of patients with neuromuscular disease". Muscle Nerve. 32 (6): 715–25. doi:10.1002/mus.20431. PMID 16124004.
{{cite journal}}: Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link)
External links
- Syncoilin at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
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