Aliases for PKP1 Gene
External Ids for PKP1 Gene
Previous GeneCards Identifiers for PKP1 Gene
This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This protein may be involved in molecular recruitment and stabilization during desmosome formation. Mutations in this gene have been associated with the ectodermal dysplasia/skin fragility syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]
GeneCards Summary for PKP1 Gene
PKP1 (Plakophilin 1) is a Protein Coding gene. Diseases associated with PKP1 include Ectodermal Dysplasia/Skin Fragility Syndrome and Ectodermal Dysplasia. Among its related pathways are Cytoskeleton remodeling Neurofilaments and Keratinization. Gene Ontology (GO) annotations related to this gene include binding and lamin binding. An important paralog of this gene is PKP2.
UniProtKB/Swiss-Prot Summary for PKP1 Gene
Seems to play a role in junctional plaques. Contributes to epidermal morphogenesis.