Gene: PKP1

Alternate names for this Gene: B6P|EDSFS

Gene 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1q32.1

Description of this Gene: plakophilin 1

Type of Gene: protein-coding

rs860554 in PKP1 gene and Panic Disorder PMID 19165232 2009 Genome-wide association study of panic disorder in the Japanese population.

rs34626929 in PKP1 gene and Triglycerides measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.