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.
February 2025 in “Animals” Understanding proteins in skin structures like claws and hair is crucial for future research.
December 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” AP-2α and AP-2β proteins are essential for healthy adult skin and hair.
54 citations
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November 2015 in “Methods in enzymology on CD-ROM/Methods in enzymology” Keratins are important for skin cell health and their problems can cause diseases.
223 citations
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January 2014 in “International Journal of Molecular Sciences” The conclusion is that proper signaling is crucial for hair growth and development, and errors can lead to cancer or hair loss.
