KEGG   VARIANT: 9414v1
Entry
9414v1                      Variant                                
Name
TJP2 mutation
Type
Loss of function
Gene
TJP2  tight junction protein 2 [KO:K06098]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 607709
Network
nt06546  IgSF CAM signaling
Disease
H00624  Progressive familial intrahepatic cholestasis
H01935  Familial hypercholanemia
Reference
  Authors
Sambrotta M, Strautnieks S, Papouli E, Rushton P, Clark BE, Parry DA, Logan CV, Newbury LJ, Kamath BM, Ling S, Grammatikopoulos T, Wagner BE, Magee JC, Sokol RJ, Mieli-Vergani G, Smith JD, Johnson CA, McClean P, Simpson MA, Knisely AS, Bull LN, Thompson RJ
  Title
Mutations in TJP2 cause progressive cholestatic liver disease.
  Journal
Nat Genet 46:326-8 (2014)
DOI:10.1038/ng.2918
Reference
  Authors
Carlton VE, Harris BZ, Puffenberger EG, Batta AK, Knisely AS, Robinson DL, Strauss KA, Shneider BL, Lim WA, Salen G, Morton DH, Bull LN
  Title
Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT.
  Journal
Nat Genet 34:91-6 (2003)
DOI:10.1038/ng1147
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