Aliases for PKP1 Gene
External Ids 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 hereditary mucoepithelial dysplasia and ectodermal dysplasia/skin fragility syndrome. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Apoptotic cleavage of cellular proteins. GO annotations related to this gene include signal transducer activity and structural constituent of epidermis. An important paralog of this gene is PKP3.
UniProtKB/Swiss-Prot for PKP1 Gene
Seems to play a role in junctional plaques. Contributes to epidermal morphogenesis.