Syncoilin
| 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
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<references />, or <references group="..." />External links
- Syncoilin at the US National Library of Medicine Medical Subject Headings (MeSH)
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