Gene Symbol | KRT16 |
Entrez Gene ID | 3868 |
Full Name | keratin 16 |
Synonyms | CK16,FNEPPK,K16,K1CP,KRT16A,NEPPK,PC1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. Most of the type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains and are clustered in a region of chromosome 17q12-q21. This keratin has been coexpressed with keratin 14 in a number of epithelial tissues, including esophagus, tongue, and hair follicles. Mutations in this gene are associated with type 1 pachyonychia congenita, non-epidermolytic palmoplantar keratoderma and unilateral palmoplantar verrucous nevus. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Pachyonychia congenita 1, 167200 (3); Palmoplantar keratoderma, nonepidermolytic, focal, 613000 (3) |