The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
1/1. Perform heat mediated antigen retrieval before commencing with IHC staining protocol.
功能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.
组织特异性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.
疾病相关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. 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. 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, although it is less severe. 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. 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. Defects in KRT14 are the cause of dermatopathia pigmentosa reticularis (DPR) [MIM:125595]. DPR is a rare ectodermal dysplasia characterized by lifelong persistent reticulate hyperpigmentation, noncicatricial alopecia, and nail dystrophy.
序列相似性Belongs to the intermediate filament family.
细胞定位Cytoplasm. Nucleus. Expressed in both as a filamentous pattern.