TLDR Mutations in the KRT16 gene can cause skin and nail disorders.
The KRT16 wild-type allele, located near 17q21.2 and approximately 6 kb in length, encoded the keratin, type I cytoskeletal 16 protein, which played a role in the maturation of the epidermis and hair follicles. Mutations in this gene were linked to conditions such as type 1 pachyonychia congenita, non-epidermolytic palmoplantar keratoderma, and unilateral palmoplantar verrucous nevus.
2 citations
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August 2020 in “Scientific reports” Genes related to keratin, skin cell differentiation, and immune functions are key in hedgehog skin and spine development.
20 citations
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August 2017 in “PLoS ONE” 61 functional keratin genes were identified in dogs and horses, leading to updated gene annotations.
February 2025 in “Animals” Understanding proteins in skin structures like claws and hair is crucial for future research.
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November 2021 in “International Journal of Molecular Sciences” Mutant keratins cause inflammation in Epidermolysis Bullosa Simplex, suggesting targeting them could help treat the disorder.
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May 2014 in “Journal of Biological Chemistry” A chimeric keratin partially improved skin structure in mice lacking keratin 5, but didn't fully restore normal skin.
