| Health / Medical Topics |
KRT1 wt Allele
Human KRT1 wild-type allele is located within 12q12-q13 and is approximately 6 kb in length. This allele, which encodes keratin, type II cytoskeletal 1 protein, plays a role in the regulation of epidermal development. Mutation of the gene is associated with bullous congenital ichthyosiform erythroderma, ichthyosis hystrix Curth-Macklin type, palmoplantar keratoderma non-epidermolytic, ichthyosis annular epidermolytic and palmoplantar keratoderma striate type 3. (NCI Thesaurus)
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