PKP1


PKP1

Plakophilin 1 (ectodermal dysplasia/skin fragility syndrome), also known as PKP1, is a human gene.cite web | title = Entrez Gene: PKP1 plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5317| accessdate = ]

PBB_Summary
section_title =
summary_text = 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.cite web | title = Entrez Gene: PKP1 plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5317| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Hatzfeld M, Kristjansson GI, Plessmann U, Weber K |title=Band 6 protein, a major constituent of desmosomes from stratified epithelia, is a novel member of the armadillo multigene family. |journal=J. Cell. Sci. |volume=107 ( Pt 8) |issue= |pages= 2259–70 |year= 1995 |pmid= 7527055 |doi=
*cite journal | author=Heid HW, Schmidt A, Zimbelmann R, "et al." |title=Cell type-specific desmosomal plaque proteins of the plakoglobin family: plakophilin 1 (band 6 protein). |journal=Differentiation |volume=58 |issue= 2 |pages= 113–31 |year= 1995 |pmid= 7890138 |doi=
*cite journal | author=Cowley CM, Simrak D, Spurr NK, "et al." |title=The plakophilin 1 (PKP1) and plakoglobin (JUP) genes map to human chromosomes 1q and 17, respectively. |journal=Hum. Genet. |volume=100 |issue= 3-4 |pages= 486–8 |year= 1997 |pmid= 9272178 |doi=
*cite journal | author=McGrath JA, McMillan JR, Shemanko CS, "et al." |title=Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome. |journal=Nat. Genet. |volume=17 |issue= 2 |pages= 240–4 |year= 1997 |pmid= 9326952 |doi= 10.1038/ng1097-240
*cite journal | author=Schmidt A, Langbein L, Rode M, "et al." |title=Plakophilins 1a and 1b: widespread nuclear proteins recruited in specific epithelial cells as desmosomal plaque components. |journal=Cell Tissue Res. |volume=290 |issue= 3 |pages= 481–99 |year= 1998 |pmid= 9369526 |doi=
*cite journal | author=Smith EA, Fuchs E |title=Defining the interactions between intermediate filaments and desmosomes. |journal=J. Cell Biol. |volume=141 |issue= 5 |pages= 1229–41 |year= 1998 |pmid= 9606214 |doi=
*cite journal | author=Bonné S, van Hengel J, van Roy F |title=Chromosomal mapping of human armadillo genes belonging to the p120(ctn)/plakophilin subfamily. |journal=Genomics |volume=51 |issue= 3 |pages= 452–4 |year= 1998 |pmid= 9721216 |doi= 10.1006/geno.1998.5398
*cite journal | author=Schmidt A, Langbein L, Prätzel S, "et al." |title=Plakophilin 3--a novel cell-type-specific desmosomal plaque protein. |journal=Differentiation |volume=64 |issue= 5 |pages= 291–306 |year= 1999 |pmid= 10374265 |doi=
*cite journal | author=Hofmann I, Mertens C, Brettel M, "et al." |title=Interaction of plakophilins with desmoplakin and intermediate filament proteins: an in vitro analysis. |journal=J. Cell. Sci. |volume=113 ( Pt 13) |issue= |pages= 2471–83 |year= 2000 |pmid= 10852826 |doi=
*cite journal | author=Hofmann I, Mücke N, Reed J, "et al." |title=Physical characterization of plakophilin 1 reconstituted with and without zinc. |journal=Eur. J. Biochem. |volume=267 |issue= 14 |pages= 4381–9 |year= 2000 |pmid= 10880961 |doi=
*cite journal | author=Whittock NV, Haftek M, Angoulvant N, "et al." |title=Genomic amplification of the human plakophilin 1 gene and detection of a new mutation in ectodermal dysplasia/skin fragility syndrome. |journal=J. Invest. Dermatol. |volume=115 |issue= 3 |pages= 368–74 |year= 2000 |pmid= 10951270 |doi= 10.1046/j.1523-1747.2000.00082.x
*cite journal | author=Chen X, Bonne S, Hatzfeld M, "et al." |title=Protein binding and functional characterization of plakophilin 2. Evidence for its diverse roles in desmosomes and beta -catenin signaling. |journal=J. Biol. Chem. |volume=277 |issue= 12 |pages= 10512–22 |year= 2002 |pmid= 11790773 |doi= 10.1074/jbc.M108765200
*cite journal | author=Hamada T, South AP, Mitsuhashi Y, "et al." |title=Genotype-phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting from mutations in plakophilin 1. |journal=Exp. Dermatol. |volume=11 |issue= 2 |pages= 107–14 |year= 2002 |pmid= 11994137 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=McMillan JR, Haftek M, Akiyama M, "et al." |title=Alterations in desmosome size and number coincide with the loss of keratinocyte cohesion in skin with homozygous and heterozygous defects in the desmosomal protein plakophilin 1. |journal=J. Invest. Dermatol. |volume=121 |issue= 1 |pages= 96–103 |year= 2003 |pmid= 12839569 |doi= 10.1046/j.1523-1747.2003.12324.x
*cite journal | author=South AP, Wan H, Stone MG, "et al." |title=Lack of plakophilin 1 increases keratinocyte migration and reduces desmosome stability. |journal=J. Cell. Sci. |volume=116 |issue= Pt 16 |pages= 3303–14 |year= 2004 |pmid= 12840072 |doi= 10.1242/jcs.00636
*cite journal | author=Cheng X, Mihindukulasuriya K, Den Z, "et al." |title=Assessment of splice variant-specific functions of desmocollin 1 in the skin. |journal=Mol. Cell. Biol. |volume=24 |issue= 1 |pages= 154–63 |year= 2004 |pmid= 14673151 |doi=
*cite journal | author=Choi HJ, Weis WI |title=Structure of the armadillo repeat domain of plakophilin 1. |journal=J. Mol. Biol. |volume=346 |issue= 1 |pages= 367–76 |year= 2005 |pmid= 15663951 |doi= 10.1016/j.jmb.2004.11.048
*cite journal | author=Wahl JK |title=A role for plakophilin-1 in the initiation of desmosome assembly. |journal=J. Cell. Biochem. |volume=96 |issue= 2 |pages= 390–403 |year= 2005 |pmid= 15988759 |doi= 10.1002/jcb.20514
*cite journal | author=Zheng R, Bu DF, Zhu XJ |title=Compound heterozygosity for new splice site mutations in the plakophilin 1 gene (PKP1) in a Chinese case of ectodermal dysplasia-skin fragility syndrome. |journal=Acta Derm. Venereol. |volume=85 |issue= 5 |pages= 394–9 |year= 2006 |pmid= 16159729 |doi= 10.1080/00015550510037684

PBB_Controls
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