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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

Pkp1  -  plakophilin 1

Mus musculus

Synonyms: AI528551, Plakophilin-1
 
 
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High impact information on Pkp1

  • This mutant transmembrane receptor, which does not bind the common desmosomal plaque proteins plakoglobin and plakophilin 1, is integrated into functional desmosomes [1].
  • Genetically, loss-of-function mutations in desmosomal proteins (plakophilin, desmoplakin, or plakoglobin) have been associated with ARVC [2].

References

  1. Assessment of splice variant-specific functions of desmocollin 1 in the skin. Cheng, X., Mihindukulasuriya, K., Den, Z., Kowalczyk, A.P., Calkins, C.C., Ishiko, A., Shimizu, A., Koch, P.J. Mol. Cell. Biol. (2004) [Pubmed]
  2. Age- and training-dependent development of arrhythmogenic right ventricular cardiomyopathy in heterozygous plakoglobin-deficient mice. Kirchhof, P., Fabritz, L., Zwiener, M., Witt, H., Sch??fers, M., Zellerhoff, S., Paul, M., Athai, T., Hiller, K.H., Baba, H.A., Breithardt, G., Ruiz, P., Wichter, T., Levkau, B. Circulation (2006) [Pubmed]
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