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Human KRT14 wild-type allele is located within 17q12-q21 and is approximately 5 kb in length. This allele, which encodes keratin, type I cytoskeletal 14 protein, plays a role in the regulation of cell morphology. Mutations in this gene are associated with dermatopathia pigmentosa reticularis, Naegeli-Franceschetti-Jadassohn syndrome, and several types of epidermolysis bullosa simplex.
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