KRT16, KRT16A, Keratin, type I cytoskeletal 16, Cytokeratin-16, CK-16, Keratin-16, K16
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],disease:Defects in KRT16 are a cause of pachyonychia congenita type 1 (PC1) [MIM:167200], also known as Jadassohn-Lewandowsky syndrome. PC1 is an autosomal dominant ectodermal dysplasia characterized by hypertrophic nail dystrophy resulting in onchyogryposis (thickening and increase in curvature of the nail), palmoplantar keratoderma, follicular hyperkeratosis, and oral leukokeratosis. Hyperhidrosis of the hands and feet is usually present.,disease:Defects in KRT16 are a cause of unilateral palmoplantar verrucous nevus (UPVN) [MIM:144200]. UPVN is characterized by a localized thickening of the skin in parts of the right palm and the right sole.,disease:Defects in KRT16 are the cause of palmoplantar keratoderma non-epidermolytic (NEPPK) [MIM:600962]. NEPKK is a dermatological disorder characterized by focal palmoplantar keratoderma with oral, genital, and follicular lesions.,disease:KRT16 and KRT17 are coexpressed only in pathological situations such as metaplasias and carcinomas of the uterine cervix and in psoriasis vulgaris.,mass spectrometry: PubMed:11840567,miscellaneous:There are two types of cytoskeletal and microfibrillar keratin, I (acidic) and II (neutral to basic) (40-55 and 56-70 kDa, respectively).,similarity:Belongs to the intermediate filament family.,subunit:Heterodimer of a type I and a type II keratin. KRT16 associates with KRT6 isomers. Interacts with TCHP. Interacts with TRADD.,tissue specificity:Expressed in the hair follicle, nail bed and in mucosal stratified squamous epithelia and, suprabasally, in oral epithelium and palmoplantar epidermis. Also found in luminal cells of sweat and mammary gland ducts.,
