- Syncoilin
protein
Name = syncoilin
caption =
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 = -p33Syncoilin is a muscle-specific intermediate filament, first isolated as a binding partner to α-dystrobrevin, as determined by a
yeast two-hybrid assay.cite journal | author = 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 | year = 2001 | month = March | pmid = 11053421 | doi = 10.1074/jbc.M008305200 | url = | issn = ]Later, a yeast two-hybrid method was used to demonstrate that syncoilin is a binding partner of
desmin .cite journal | author = 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 | year = 2002 | month = February | pmid = 11694502 | doi = 10.1074/jbc.M105273200 | url = | issn = ] These binding partners suggest that syncoilin acts as a mechanical "linker" between thesarcomere Z-disk (where desmin is localized) and thedystrophin -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 desminopathycite journal | author = 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 | year = 2003 | month = January | pmid = 12467731 | doi = | url = http://linkinghub.elsevier.com/retrieve/pii/S0960896602001815 | issn = ] and
muscular dystrophy .cite journal | author = 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 | year = 2005 | month = December | pmid = 16124004 | doi = 10.1002/mus.20431 | url = | issn = ] Therefore, syncoilin is being explored as a promising marker of neuromuscular disease.References
External links
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