PKP1
plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)
Synonyms:
B6P
Species:
Human PKP1 (5317), Mouse Pkp1 (18772), Rat Pkp1 (304822), dog PKP1 (607140), sheep PKP1 (101109291), domestic guinea pig Pkp1 (100733998), naked mole-rat Pkp1 (101724616), cow PKP1 (281405), Horse PKP1 (100051894), domestic cat PKP1 (101099353)
UniProtKB ID:
Gene ID:
- Human(5317) 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]
- Mouse(18772) plakophilin 1
- Rat(304822) plakophilin 1
- dog(607140) plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)
- sheep(101109291) plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)
- domestic guinea pig(100733998) plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)
- naked mole-rat(101724616) plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)
- cow(281405) plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)
- Horse(100051894) plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)
- domestic cat(101099353) plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)
- chicken(421158) plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)
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