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PKP1 - plakophilin 1

  • Synonym(s) : B6P, ectodermal dysplasia/skin fragility syndrome
  • Previous symbols and names : plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)
  • Type : gene with protein product
  • Chromosomal location : 1q32.1
  • OMIM: 601975
  • HGNC: 9023
  • UniProtKB: Q13835
  • Genatlas: PKP1
  • Ensembl: ENSG00000081277
  • IUPHAR-DB: -
  • Reactome: Q13835
  • LOVD: PKP1

Diseases list

  : Assessed

Additional information

Health care resources for this gene

Specialised Social Services

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