Gene Data From HGNC: https://www.genenames.org/download/statistics-and-files/
Symbol:
PKP1
Name:
plakophilin 1
Location:
01q32.1
Locus Group:
protein-coding gene
Gene Type:
Protein Coding
Locus Type:
gene with protein product
DrugMatrix Data: https://cebs.niehs.nih.gov/cebs/paper/15670
DrugMatrix Gene Data For: 1 Matched Gene
Gene Name: plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)
Symbol:
Description: 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.