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Keratin 14 was the first type I keratin sequence determined. [5] Keratin 14 is also known as cytokeratin-14 (CK-14) or keratin-14 (KRT14). In humans it is encoded by the KRT14 gene. [6] [7] [8] Keratin 14 is usually found as a heterodimer with type II keratin 5 and form the cytoskeleton of epithelial cells.
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The first sequences of keratins revealed that keratins could be grouped into two categories based on their sequence homologies. [1] [2] These two groups of keratins were named as type I and type II keratins. [2]
Cutaneous conditions caused by mutations in keratin proteins Defective keratin type Condition(s) 1: Epidermolytic hyperkeratosis Ichthyosis hystrix of Curth–Macklin Diffuse nonepidermolytic palmoplantar keratoderma (Unna–Thost keratoderma) Diffuse epidermolytic palmoplantar keratoderma (Vörner keratoderma) 2 (2e) Ichthyosis bullosa of ...
NFJS is caused by mutations in the keratin 14 (KRT14) gene, located on chromosome 17q12-21. [3] [5] The disorder is inherited in an autosomal dominant manner, which means that the defective gene responsible for a disorder is located on an autosome (chromosome 17 is an autosome), and only one copy of the defective gene is sufficient to cause the disorder, when inherited from a parent who has ...
Keratin protein expression within the various layers and anatomic locations of the human integumentary system Keratin type Location of expression 1: Suprabasal epidermis of skin 2 (2e) Granular layer: 3: Cornea: 4: Suprabasal epidermis of mucosa 5: Basal layer: 6a: Suprabasal palmoplantar skin 6b: Basal palmoplantar skin Nail bed Hair follicle ...
34βE12, often written as 34betaE12 and also known as CK34βE12 and keratin 903 (CK903), is an antibody specific for high molecular weight cytokeratins 1, 5, 10 and 14. [ 1 ] [ 2 ] It is sometimes, less precisely, referred to as high-molecular weight keratin ( HMWK ) and high-molecular weight cytokeratin ( HMWCK ).
3881 16671 Ensembl ENSG00000094796 ENSG00000262993 ENSMUSG00000057723 UniProt Q15323 Q61897 RefSeq (mRNA) NM_002277 NM_013570 RefSeq (protein) NP_002268 NP_038598 Location (UCSC) Chr 17: 41.39 – 41.4 Mb Chr 11: 99.91 – 99.92 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Keratin, type I cuticular Ha1 is a protein that in humans is encoded by the KRT31 gene. Function The protein ...