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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 ...
Filaggrin (filament aggregating protein) is a filament-associated protein that binds to keratin fibers in epithelial cells.Ten to twelve filaggrin units are post-translationally hydrolyzed from a large profilaggrin precursor protein during terminal differentiation of epidermal cells. [3]
Epidermolysis bullosa simplex (EBS) is a disorder resulting from mutations in the genes encoding keratin 5 or keratin 14. [1]: 598 [2] It is one of the major forms of epidermolysis bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily. [3]
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 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 ...
Harlequin-type ichthyosis is caused by mutations in the ABCA12 gene. [4] This gene codes for a protein necessary for transporting lipids out of cells in the outermost layer of skin. [4] The disorder is autosomal recessive and inherited from parents who are carriers. [4] Diagnosis is often based on appearance at birth and confirmed by genetic ...
Symptoms vary in severity and extent of skin involvement. [5] The two main types are divided into one involving palms and soles and the other without. [6] EI is caused by a genetic mutation. [6] The condition involves the clumping of keratin filaments. [5] [6] The condition is rare, affecting around 1 in 200,000 to 300,000 babies. [6]
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 ...
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