KRT16 Wild Type Allele
February 2020
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Definitions
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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.