KEGG   VARIANT: 3728v1
Entry
3728v1                      Variant                                
Name
JUP mutation
Type
Loss of function
Gene
JUP  junction plakoglobin [KO:K10056]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 173325
Network
nt06539  Cytoskeleton in muscle cells
nt06545  Cornified envelope formation
nt06549  Cadherin signaling
Disease
H00293  Arrhythmogenic right ventricular cardiomyopathy
H00669  Naxos disease
Reference
PMID:17924338
  Authors
Asimaki A, Syrris P, Wichter T, Matthias P, Saffitz JE, McKenna WJ
  Title
A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy.
  Journal
Am J Hum Genet 81:964-73 (2007)
DOI:10.1086/521633
Reference
PMID:10902626
  Authors
McKoy G, Protonotarios N, Crosby A, Tsatsopoulou A, Anastasakis A, Coonar A, Norman M, Baboonian C, Jeffery S, McKenna WJ
  Title
Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease).
  Journal
Lancet 355:2119-24 (2000)
DOI:10.1016/S0140-6736(00)02379-5
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