PKP1, Official Symbol PKP1provided by HGNC Official Full Name plakophilin 1provided by HGNC Primary source HGNC:HGNC:9023 See related Ensembl:ENSG00000081277 MIM:601975; AllianceGenome:HGNC:9023 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as B6P; EDSFS Summary 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] Expression Biased expression in skin (RPKM 358.6) and esophagus (RPKM 152.0) See more Orthologs mouse all