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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 ...
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.
Keratin 16 is a type I cytokeratin. It is paired with keratin 6 in a number of epithelial tissues , including nail bed , esophagus , tongue , and hair follicles . Mutations in the gene encoding this protein are associated with the genetic skin disorders including pachyonychia congenita , non-epidermolytic palmoplantar keratoderma and unilateral ...
Overall, keratin type 2 plays a crucial role in maintaining the strength and integrity of the skin, hair, and nails. Mutations in keratin genes can lead to various genetic disorders that affect these tissues, such as epidermolysis bullosa simplex, a rare condition characterized by blistering and erosion of the skin and mucous membranes. [3]
Keratin 9 is a protein that in humans is encoded by the KRT9 gene. [5] [6] Keratin 9 is a type I cytokeratin. It is found only in the terminally differentiated epidermis of palms and soles. Mutations in the gene encoding this protein cause epidermolytic palmoplantar keratoderma. [7]
A keratin disease is a genetic disorder of one of the keratin genes. [ citation needed ] An example is monilethrix . [ 1 ] The first to be identified was epidermolysis bullosa simplex .
Keratin, type I cytoskeletal 10 also known as cytokeratin-10 (CK-10) or keratin-10 (K10) is a protein that in humans is encoded by the KRT10 gene. [ 5 ] [ 6 ] [ 7 ] Keratin 10 is a type I keratin . Function
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 ...