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GlossaryPlakophilin-1 (PKP1)

protein crucial for cell adhesion in skin and hair

Plakophilin-1 (PKP1) is a protein that plays a crucial role in the formation and maintenance of desmosomes, which are structures that help cells stick together, particularly in tissues that experience a lot of stress, like the skin and heart. Mutations in the gene encoding Plakophilin-1 can lead to skin disorders and hair loss conditions, such as ectodermal dysplasia/skin fragility syndrome, highlighting its importance in maintaining the integrity of epithelial tissues.

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Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs

research Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs

28 citations , February 2012 in “PLoS ONE”

A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.

research Histopathological and Ultrastructural Study of Ectodermal Dysplasia/Skin Fragility Syndrome

31 citations , August 2005 in “The American Journal of Dermatopathology”

The study concluded that PKP1 is essential for skin integrity and hair growth, and its dysfunction causes the symptoms of ectodermal dysplasia/skin fragility syndrome.

research Dermatopathology and Molecular Genetics

12 citations , February 2008 in “Journal of The American Academy of Dermatology”

Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.

research Complementary Evolution of Coding and Noncoding Sequence Underlies Mammalian Hairlessness

2 citations , March 2021 in “bioRxiv (Cold Spring Harbor Laboratory)”

Hairless mammals have genetic changes in both their protein-coding and regulatory sequences related to hair.

research Plakophilin 1 Suppresses Keratinocyte Innate Immune Responses Through DExD/H Helicases

December 2025

Plakophilin 1 helps control skin cell immune responses to prevent excessive inflammation.

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