KEGG   VARIANT: 5318v1
Entry
5318v1                      Variant                                
Name
PKP2 mutation
Type
Loss of function
Gene
PKP2  plakophilin-2 isoform 2b [KO:K12642]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 602861
Network
nt06539  Cytoskeleton in muscle cells
nt06545  Cornified envelope formation
nt06549  Cadherin signaling
Disease
H00293  Arrhythmogenic right ventricular cardiomyopathy
Reference
  Authors
Gerull B, Heuser A, Wichter T, Paul M, Basson CT, McDermott DA, Lerman BB, Markowitz SM, Ellinor PT, MacRae CA, Peters S, Grossmann KS, Drenckhahn J, Michely B, Sasse-Klaassen S, Birchmeier W, Dietz R, Breithardt G, Schulze-Bahr E, Thierfelder L
  Title
Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy.
  Journal
Nat Genet 36:1162-4 (2004)
DOI:10.1038/ng1461
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