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.[6]
^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^Cowley CM, Simrak D, Spurr NK, Arnemann J, Buxton RS (September 1997). "The plakophilin 1 (PKP1) and plakoglobin (JUP) genes map to human chromosomes 1q and 17, respectively".Hum Genet.100 (3–4):486–8.doi:10.1007/s004390050539.PMID9272178.S2CID12384017.
^Hofmann I, Mertens C, Brettel M, Nimmrich V, Schnölzer M, Herrmann H (July 2000). "Interaction of plakophilins with desmoplakin and intermediate filament proteins: an in vitro analysis".J. Cell Sci. 113. ( Pt 13) (13):2471–83.doi:10.1242/jcs.113.13.2471.PMID10852826.
Hatzfeld M, Kristjansson GI, Plessmann U, Weber K (1995). "Band 6 protein, a major constituent of desmosomes from stratified epithelia, is a novel member of the armadillo multigene family".J. Cell Sci. 107. ( Pt 8) (8):2259–70.doi:10.1242/jcs.107.8.2259.PMID7527055.
Heid HW, Schmidt A, Zimbelmann R, Schäfer S, Winter-Simanowski S, Stumpp S, Keith M, Figge U, Schnölzer M, Franke WW (1995). "Cell type-specific desmosomal plaque proteins of the plakoglobin family: plakophilin 1 (band 6 protein)".Differentiation.58 (2):113–31.doi:10.1046/j.1432-0436.1995.5820113.x.PMID7890138.
McGrath JA, McMillan JR, Shemanko CS, Runswick SK, Leigh IM, Lane EB, Garrod DR, Eady RA (1997). "Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome".Nat. Genet.17 (2):240–4.doi:10.1038/ng1097-240.PMID9326952.S2CID23284411.
Schmidt A, Langbein L, Rode M, Prätzel S, Zimbelmann R, Franke WW (1998). "Plakophilins 1a and 1b: widespread nuclear proteins recruited in specific epithelial cells as desmosomal plaque components".Cell Tissue Res.290 (3):481–99.doi:10.1007/s004410050956.PMID9369526.S2CID6183059.
Bonné S, van Hengel J, van Roy F (1998). "Chromosomal mapping of human armadillo genes belonging to the p120(ctn)/plakophilin subfamily".Genomics.51 (3):452–4.doi:10.1006/geno.1998.5398.PMID9721216.
Hofmann I, Mertens C, Brettel M, Nimmrich V, Schnölzer M, Herrmann H (2000). "Interaction of plakophilins with desmoplakin and intermediate filament proteins: an in vitro analysis".J. Cell Sci. 113. ( Pt 13) (13):2471–83.doi:10.1242/jcs.113.13.2471.PMID10852826.
Hamada T, South AP, Mitsuhashi Y, Kinebuchi T, Bleck O, Ashton GH, Hozumi Y, Suzuki T, Hashimoto T, Eady RA, McGrath JA (2002). "Genotype-phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting from mutations in plakophilin 1".Exp. Dermatol.11 (2):107–14.doi:10.1034/j.1600-0625.2002.110202.x.PMID11994137.S2CID37777985.
