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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for PKP1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID5317
Official gene symbolPKP1
Full nameplakophilin 1 (ectodermal dysplasia/skin fragility syndrome)
Aliases,B6P,MGC138829,
Gene summaryThis 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]
LocationChromosome: 1   Locus: 1q32
Gene position201252580 - 201302121  Map Viewer
Gene orientationplus
Gene size49542 bp
Gene sequence
OMIM ID601975