Syncoilin
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| syncoilin | |||||||
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| Identifiers | |||||||
| Symbol | SYNC1 | ||||||
| NCBI gene | 81493 | ||||||
| HGNC | 28897 | ||||||
| UniProt | Q9H7C4 | ||||||
| Other data | |||||||
| Locus | Chr. 1 p34.3-p33 | ||||||
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Syncoilin is a muscle-specific intermediate filament, first isolated by Newey and colleagues[1] as a binding partner to α-dystrobrevin, as determined by a yeast two-hybrid assay. Later, Poon and colleagues[2] used yeast two-hybrid methods 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[3] and muscular dystrophy[4]. Therefore, syncoilin is being explored as a promising marker of neuromuscular disease.
References
- ^ Newey; et al. (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. PMID 11053421.
{{cite journal}}: Explicit use of et al. in:|author=(help) - ^ Poon; et al. (2002). "Association of syncoilin and desmin: linking intermediate filament proteins to the dystrophin-associated protein complex". J Biol Chem. 227 (5): 3433–9. PMID 11694502.
{{cite journal}}: Explicit use of et al. in:|author=(help) - ^ Howman; et al. (2003). "Syncoilin accumulation in two patients with desmin-related myopathy". Neuromuscul Disord. 13 (1): 42–8. PMID 12467731.
{{cite journal}}: Explicit use of et al. in:|author=(help) - ^ Brown; et al. (2005). "Syncoilin upregulation in muscle of patients with neuromuscular disease". Muscle Nerve. 32 (6): 715–25. PMID 16124004.
{{cite journal}}: Explicit use of et al. in:|author=(help)
External links
- Syncoilin at the U.S. National Library of Medicine Medical Subject Headings (MeSH)