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GlossaryPlakophilin-1

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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research Complementary Evolution of Coding and Noncoding Sequence Underlies Mammalian Hairlessness

March 2022

Hairless mammals evolved quickly in both gene and non-gene areas related to skin and hair.

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 Alopecia in Epidermolysis Bullosa

21 citations, November 2009 in “Dermatologic Clinics”

The document suggests that certain protein deficiencies and scalp blistering in Epidermolysis Bullosa may cause hair loss.

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 Unraveling the Molecular Mechanisms of Hair and Nail Genodermatoses

23 citations, November 2001 in “Archives of Dermatology”

Genetic discoveries are key for understanding, diagnosing, and treating inherited hair and nail disorders.

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