Disease:Defects in KRT13 are a cause of white sponge nevus of cannon (WSN) [MIM:193900]. WSN is a rare autosomal dominant disorder which predominantly affects non-cornified stratified squamous epithelia. Clinically , it is characterized by the presence of soft , white , and spongy plaques in the oral mucosa. The characteristic histopathologic features are epithelial thickening , parakeratosis , and vacuolization of the suprabasal layer of oral epithelial keratinocytes. Less frequently the mucous membranes of the nose , esophagus , genitalia and rectum are involved. ,miscellaneous:There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II (neutral to basic; 56-70 kDa) . ,online information:Keratin-13 entry ,PTM:O-glycosylated; glycans consist of single N-acetylglucosamine residues. ,similarity:Belongs to the intermediate filament family. ,subunit:Heterotetramer of two type I and two type II keratins. keratin-13 is generally associated with keratin-4. ,tissue specificity:Expressed in some epidermal sweat gland ducts (at protein level) and in exocervix , esophagus and placenta. ,
展开内容