keratin 5
Dernière mise à jour 18 Aug 2020
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La KRT5 gene provides instructions for making a protein called keratin 5. 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 5 is produced in cells called keratinocytes in the outer layer of the skin (the epidermis).
Normal function
La KRT5 gene provides instructions for making a protein called keratin 5. 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 5 is produced in cells called keratinocytes in the outer layer of the skin (the epidermis).
Keratin 5 partners with a similar protein, keratin 14 (produced from the KRT14 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 5 interacts with pigment-producing cells called melanocytes to transport melanosomes, which are cellular structures within melanocytes that carry pigment called melanin. The transport of these structures from melanocytes to keratinocytes is important for the development of normal skin coloration (pigmentation).
Conditions referring to this gene or chromosome
Other names
58 kda cytokeratin
CK5
cytokeratin 5
EBS2
K2C5_HUMAN
K5
keratin 5, type II
keratin, type II cytoskeletal 5
Keratin-5
KRT5A
Related patient information and medicines
Patient information leaflet
Maladie de Bowen
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 skin is constantly.
Patient information leaflet
Kystes épidermoïdes et pilaires
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. There are lots of other names for epidermoid cysts, suc... This substance is soggy keratin. Keratin is made by skin cells and is the substance that.
Patient information leaflet
Types de cancer de la peau
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
Milia
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
Cors et callosités
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 et 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
Cholestéatome
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.
Lectures complémentaires et références
- keratin 5; 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.
- Betz RC, Planko L, Eigelshoven S, Hanneken S, Pasternack SM, Bussow H, Van Den Bogaert K, Wenzel J, Braun-Falco M, Rutten A, Rogers MA, Ruzicka T, Nothen MM, Magin TM, Kruse R. Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease. Am J Hum Genet. 2006 Mar;78(3):510-9. doi: 10.1086/500850. Epub 2006 Jan 19.
- 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.
- Hanneken S, Rutten A, Pasternack SM, Eigelshoven S, El Shabrawi-Caelen L, Wenzel J, Braun-Falco M, Ruzicka T, Nothen MM, Kruse R, Betz RC. Systematic mutation screening of KRT5 supports the hypothesis that Galli-Galli disease is a variant of Dowling-Degos disease. Br J Dermatol. 2010 Jul;163(1):197-200. doi: 10.1111/j.1365-2133.2010.09741.x. Epub 2010 Mar 5.
- Li M, Wang J, Zhang J, Ni C, Li X, Liang J, Cheng R, Li Z, Yao Z. Genome-wide linkage and exome sequencing analyses identify an initiation codon mutation of KRT5 in a unique Chinese family with generalized Dowling-Degos disease. Br J Dermatol. 2016 Mar;174(3):663-6. doi: 10.1111/bjd.14178. Epub 2015 Dec 26. No abstract available.
- 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.
- Planko L, Bohse K, Hohfeld J, Betz RC, Hanneken S, Eigelshoven S, Kruse R, Nothen MM, Magin TM. Identification of a keratin-associated protein with a putative role in vesicle transport. Eur J Cell Biol. 2007 Dec;86(11-12):827-39. doi: 10.1016/j.ejcb.2007.02.004. Epub 2007 Mar 29.
- 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.
- So JY, Teng J. Epidermolysis Bullosa Simplex. 1998 Oct 7 [updated 2022 Aug 4]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1369/
- Verma S, Pasternack SM, Rutten A, Ruzicka T, Betz RC, Hanneken S. The First Report of KRT5 Mutation Underlying Acantholytic Dowling-Degos Disease with Mottled Hypopigmentation in an Indian Family. Indian J Dermatol. 2014 Sep;59(5):476-80. doi: 10.4103/0019-5154.139884.
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