Disease:Defects in KRT14 are a cause of epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]. DM-EBS is a severe form of intraepidermal epidermolysis bullosa characterized by generalized herpetiform blistering , milia formation , dystrophic nails , and mucous membrane involvement. ,Disease:Defects in KRT14 are a cause of epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900]. K-EBS is a form of intraepidermal epidermolysis bullosa characterized by generalized skin blistering. The phenotype is not fundamentally distinct from the Dowling-Meara type , althought it is less severe. ,Disease:Defects in KRT14 are a cause of epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]. WC-EBS is a form of intraepidermal epidermolysis bullosa characterized by blistering limited to palmar and plantar areas of the skin. ,Disease:Defects in KRT14 are the cause of dermatopathia pigmentosa reticularis (DPR) [MIM:125595]. DPR is a rare ectodermal dysplasia characterized by lifelong persistant reticulate hyperpigmentation , noncicatricial alopecia , and nail dystrophy. ,Disease:Defects in KRT14 are the cause of epidermolysis bullosa simplex autosomal recessive (AREBS) [MIM:601001]. AREBS is an intraepidermal epidermolysis bullosa characterized by localized blistering on the dorsal , lateral and plantar surfaces of the feet. ,Disease:Defects in KRT14 are the cause of Naegeli-Franceschetti-Jadassohn syndrome (NFJS) [MIM:161000]; also known as Naegeli syndrome. NFJS is a rare autosomal dominant form of ectodermal dysplasia. The cardinal features are absence of dermatoglyphics (fingerprints) , reticular cutaneous hyperpigmentation (starting at about the age of 2 years without a preceding inflammatory stage) , palmoplantar keratoderma , hypohidrosis with diminished sweat gland function and discomfort provoked by heat , nail dystrophy , and tooth enamel defects. ,Function:The nonhelical tail domain is involved in promoting KRT5-KRT14 filaments to self-organize into large bundles and enhances the mechanical properties involved in resilience of keratin intermediate filaments in vitro. ,miscellaneous:There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II (neutral to basic; 56-70 kDa) . ,similarity:Belongs to the intermediate filament family. ,subcellular location:Expressed in both as a filamentous pattern. ,subunit:Heterotetramer of two type I and two type II keratins. keratin-14 associates with keratin-5. Interacts with TRADD and with keratin filaments. Associates with other type I keratins. ,tissue specificity:Detected in the basal layer , lowered within the more apically located layers specifically in the stratum spinosum , stratum granulosum but is not detected in stratum corneum. Strongly expressed in the outer root sheath of anagen follicles but not in the germinative matrix , inner root sheath or hair. Found in keratinocytes surrounding the club hair during telogen. ,
展开内容