allergen:Causes an allergic reaction in human. Binds to IgE from atopic dermatitis (AD) patients. Identified as an IgE autoantigen in atopic dermatitis (AD) patients with severe skin manifestations. ,Disease:Defects in KRT6A 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. ,miscellaneous:There are at least six isoforms of human type II keratin-6 (K6) , K6A being the most abundant representing about 77% of all forms found in epithelia. ,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. KRT6 isomers associate with KRT16 and/or KRT17. Interacts with TCHP. ,tissue specificity:Constitutively expressed in distinct types of epithelia such as those in oral mucosa , esophagus , papillae of tongue and hair follicle outer root sheath. ,
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