keratin 14
עודכן לאחרונה 18 Aug 2020
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ה KRT14 gene provides instructions for making a protein called keratin 14. Keratins are a group of tough, fibrous proteins that form the structural framework of certain cells, particularly cells that make up the skin, hair, and nails. Keratin 14 is specifically produced in cells called keratinocytes in the outer layer of the skin (the epidermis).
Normal function
ה KRT14 gene provides instructions for making a protein called keratin 14. Keratins are a group of tough, fibrous proteins that form the structural framework of certain cells, particularly cells that make up the skin, hair, and nails. Keratin 14 is specifically produced in cells called keratinocytes in the outer layer of the skin (the epidermis).
Keratin 14 partners with a similar protein, keratin 5 (produced from the KRT5 gene), to form molecules called keratin intermediate filaments. These filaments assemble into strong networks that help attach keratinocytes together and anchor the epidermis to underlying layers of skin. The network of keratin intermediate filaments provides strength and resiliency to the skin and protects it from being damaged by friction and other everyday physical stresses.
Researchers believe that keratin 14 may also play a role in the formation of sweat glands and the development of patterned ridges on the skin of the hands and feet. These ridges, called dermatoglyphs, are the basis for each person's unique fingerprints.
Conditions referring to this gene or chromosome
Other names
CK14
cytokeratin 14
EBS3
EBS4
K14
K1C14_HUMAN
keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)
keratin 14, type I
Keratin, type I cytoskeletal 14
Keratin-14
Related patient information and medicines
Patient information leaflet
מחלת בוון
...inner layer (dermis)Keratinocytes. These cells are in layers above the basal layer. They make a substance called keratin which is a hard waxy material. Keratinocytes are constantly dividing and a certain number are dying at any given time. The top (horny) layer of the epidermis is made of dead keratinocytes which contain keratin. The top of the.
Patient information leaflet
מיליה
In other people, they may take longer to clear. In persistent cases, treatment may be suggested. What are milia. A milium is a small, raised bump on the skin. It is a type of tiny skin cyst filled with a protein called keratin. Many are usually found together and so they are called milia (the plural of milium). What do milia look like. As can be.
Patient information leaflet
ציסטות אפידרמואידיות ופילאריות
Epidermoid and pilar cysts are commonly referred to as 'sebaceous cysts' (pronounced 'seb-ay-shuss'). They are overgrowths of skin cells (called keratin) held together in a little capsule, or sac. They are harmless smooth lumps just under the surface o... This substance is soggy keratin. Keratin is made by skin cells and is the substance that.
Patient information leaflet
סוגי סרטן עור
This leaflet gives a general overview about skin cancer and the different skin cancer types - melanoma and non-melanoma. What is cancer. These cells are in layers above the basal layer. They make a substance called keratin which is a hard wax-like material. Keratinocytes are constantly dividing and a certain number are dying at any given time. The.
Patient information leaflet
יבלות וקלוס
Chemical treatment... These usually contain salicylic acid, which is also present in many wart-removal products. Salicylic acid is a keratolytic, which means it dissolves the protein (keratin) that makes up most of both the corn and the thick layer of dead skin which usually tops it. It is important to use these products as directed in the package.
Patient information leaflet
כולסטאטומה
Cholesteatoma is the name given to a collection of skin cells that form a pearly-white greasy-looking lump deep in the ear, usually at the top of the area behind the eardrum. What is a cholesteatoma. A cholesteatoma is a non-cancerous abnormal growth of skin-like tissue in the middle ear. Cholesteatomas ... What does a cholesteatoma look like. In.
קריאה נוספת והפניות
- keratin 14; MedlinePlus, National Library of Medicine.
- Arin MJ, Grimberg G, Schumann H, De Almeida H Jr, Chang YR, Tadini G, Kohlhase J, Krieg T, Bruckner-Tuderman L, Has C. Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: correlation between genotype and phenotype. Br J Dermatol. 2010 Jun;162(6):1365-9. doi: 10.1111/j.1365-2133.2010.09657.x. Epub 2010 Feb 25.
- Bolling MC, Lemmink HH, Jansen GH, Jonkman MF. Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients. Br J Dermatol. 2011 Mar;164(3):637-44. doi: 10.1111/j.1365-2133.2010.10146.x. Epub 2011 Feb 17.
- Goh BK, Common JE, Gan WH, Kumarasinghe P. A case of dermatopathia pigmentosa reticularis with wiry scalp hair and digital fibromatosis resulting from a recurrent KRT14 mutation. Clin Exp Dermatol. 2009 Apr;34(3):340-3. doi: 10.1111/j.1365-2230.2008.02950.x. Epub 2008 Nov 24.
- Lugassy J, Itin P, Ishida-Yamamoto A, Holland K, Huson S, Geiger D, Hennies HC, Indelman M, Bercovich D, Uitto J, Bergman R, McGrath JA, Richard G, Sprecher E. Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14. Am J Hum Genet. 2006 Oct;79(4):724-30. doi: 10.1086/507792. Epub 2006 Aug 25.
- Lugassy J, McGrath JA, Itin P, Shemer R, Verbov J, Murphy HR, Ishida-Yamamoto A, Digiovanna JJ, Bercovich D, Karin N, Vitenshtein A, Uitto J, Bergman R, Richard G, Sprecher E. KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-alpha-induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndrome. J Invest Dermatol. 2008 Jun;128(6):1517-24. doi: 10.1038/sj.jid.5701187. Epub 2007 Nov 29.
- Muller FB, Kuster W, Wodecki K, Almeida H Jr, Bruckner-Tuderman L, Krieg T, Korge BP, Arin MJ. Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly. Hum Mutat. 2006 Jul;27(7):719-20. doi: 10.1002/humu.9437.
- Pfendner EG, Sadowski SG, Uitto J. Epidermolysis bullosa simplex: recurrent and de novo mutations in the KRT5 and KRT14 genes, phenotype/genotype correlations, and implications for genetic counseling and prenatal diagnosis. J Invest Dermatol. 2005 Aug;125(2):239-43. doi: 10.1111/j.0022-202X.2005.23818.x.
- Schuilenga-Hut PH, Vlies Pv, Jonkman MF, Waanders E, Buys CH, Scheffer H. Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations. Hum Mutat. 2003 Apr;21(4):447. doi: 10.1002/humu.9124.
- Titeux M, Mazereeuw-Hautier J, Hadj-Rabia S, Prost C, Tonasso L, Fraitag S, de Prost Y, Hovnanian A, Bodemer C. Three severe cases of EBS Dowling-Meara caused by missense and frameshift mutations in the keratin 14 gene. J Invest Dermatol. 2006 Apr;126(4):773-6. doi: 10.1038/sj.jid.5700154.
- van Steensel MA, Lemmink HH. A missense mutation in KRT14 causing a dermatopathia pigmentosa reticularis/Naegeli-Franceschetti-Jadassohn phenotype. J Eur Acad Dermatol Venereol. 2010 Sep;24(9):1116-7. doi: 10.1111/j.1468-3083.2010.03598.x. Epub 2010 Feb 9. No abstract available.
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