| 词条 | Syncoilin |
| 释义 |
| Name = syncoilin | caption = | image = | width = | HGNCid = 28897 | Symbol = SYNC1 | AltSymbols = | EntrezGene = 81493 | OMIM = 611750 | RefSeq = NM_030786 | UniProt = Q9H7C4 | PDB = | ECnumber = | Chromosome = 1 | Arm = p | Band = 35.1 | LocusSupplementaryData = -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. References1. ^{{cite journal |vauthors=Newey SE, Howman EV, Ponting CP, Benson MA, Nawrotzki R, Loh NY, Davies KE, Blake DJ | title = Syncoilin, a novel member of the intermediate filament superfamily that interacts with alpha-dystrobrevin in skeletal muscle | journal = J. Biol. Chem. | volume = 276 | issue = 9 | pages = 6645–55 |date=March 2001 | pmid = 11053421 | doi = 10.1074/jbc.M008305200 | url = }} 2. ^{{cite journal |vauthors=Poon E, Howman EV, Newey SE, Davies KE | title = Association of syncoilin and desmin: linking intermediate filament proteins to the dystrophin-associated protein complex | journal = J. Biol. Chem. | volume = 277 | issue = 5 | pages = 3433–9 |date=February 2002 | pmid = 11694502 | doi = 10.1074/jbc.M105273200 | url = }} 3. ^{{cite journal |vauthors=Howman EV, Sullivan N, Poon EP, Britton JE, Hilton-Jones D, Davies KE | title = Syncoilin accumulation in two patients with desmin-related myopathy | journal = Neuromuscul. Disord. | volume = 13 | issue = 1 | pages = 42–8 |date=January 2003 | pmid = 12467731 | doi = 10.1016/S0960-8966(02)00181-5| url = http://linkinghub.elsevier.com/retrieve/pii/S0960896602001815 }} 4. ^{{cite journal |vauthors=Brown SC, Torelli S, Ugo I, De Biasia F, Howman EV, Poon E, Britton J, Davies KE, Muntoni F | title = Syncoilin upregulation in muscle of patients with neuromuscular disease | journal = Muscle Nerve | volume = 32 | issue = 6 | pages = 715–25 |date=December 2005 | pmid = 16124004 | doi = 10.1002/mus.20431 | url = }} External links
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