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. ,
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