Reviewed May 2013
What is the official name of the KRT14 gene?
The official name of this gene is “keratin 14, type I.”
KRT14 is the gene's official symbol. The KRT14 gene is also known by other names, listed below.
What is the normal function of the KRT14 gene?
The 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.
Does the KRT14 gene share characteristics with other genes?
The KRT14 gene belongs to a family of genes called KRT (keratins).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
How are changes in the KRT14 gene related to health conditions?
- epidermolysis bullosa simplex - caused by mutations in the KRT14 gene
More than 60 mutations in the KRT14 gene have been identified in people with epidermolysis bullosa simplex, a condition that causes the skin to be very fragile and to blister easily. Most of these genetic changes alter single protein building blocks (amino acids) used to make keratin 14. The most severe form of epidermolysis bullosa simplex, the Dowling-Meara type, usually results from changes in regions of keratin 14 that are essential for the normal assembly of keratin intermediate filaments. Milder forms of the disorder, including the localized type (formerly called the Weber-Cockayne type) and a form known as the other generalized type (formerly called the Koebner type), are often caused by changes affecting less critical regions of the protein.
KRT14 gene mutations change the structure and function of keratin 14, preventing it from working effectively with keratin 5 and interfering with the assembly of the keratin intermediate filament network. Mutations that cause severe forms of the disorder severely disrupt the assembly of keratin intermediate filaments, while mutations that result in milder forms impair keratin filament assembly to a lesser degree. A disruption in this network makes keratinocytes fragile and prone to rupture. Minor trauma to the skin, such as rubbing or scratching, can cause these cells to break down, resulting in the formation of painful, fluid-filled blisters.
- Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis - caused by mutations in the KRT14 gene
Several mutations in the KRT14 gene have been found to cause Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis (NFJS/DPR). This disorder is a rare form of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth, and sweat glands. NFJS and DPR were originally described as separate conditions; however, they are now often considered forms of the same disorder.
The KRT14 gene mutations that cause NFJS/DPR most likely reduce the amount of functional keratin 14 in keratinocytes. A shortage of this protein makes these cells more likely to self-destruct (undergo apoptosis). The resulting loss of keratinocytes alters the normal development and structure of ectodermal tissues, which likely underlies most of the skin and nail problems characteristic of NFJS/DPR. However, it is unclear how a shortage of keratin 14 is related to the net-like pattern of dark skin coloring (reticulate hyperpigmentation) that is also a hallmark of this condition.
Where is the KRT14 gene located?
Cytogenetic Location: 17q21.2
Molecular Location on chromosome 17: base pairs 41,582,279 to 41,586,895
(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (http://www.ncbi.nlm.nih.gov/gene/3861))
The KRT14 gene is located on the long (q) arm of chromosome 17 at position 21.2.
More precisely, the KRT14 gene is located from base pair 41,582,279 to base pair 41,586,895 on chromosome 17.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about KRT14?
You and your healthcare professional may find the following resources about KRT14 helpful.
Educational resources - Information pages
- Madame Curie Bioscience Database: Epidermal Blistering Caused by Keratin Mutations (http://www.ncbi.nlm.nih.gov/books/NBK6247/)
- Molecular Cell Biology (fourth edition, 2000): Intermediate Filaments (http://www.ncbi.nlm.nih.gov/books/NBK21560/)
- Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1369)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for KRT14 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3861%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28%28KRT14%5BTIAB%5D%29%20OR%20%28keratin%2014%5BTIAB%5D%29%29%20OR%20%28%28cytokeratin%2014%5BTIAB%5D%29%20OR%20%28EBS3%5BTIAB%5D%29%20OR%20%28EBS4%5BTIAB%5D%29%29%20AND%20%28%28Genes%5BMH%5D%29%20OR%20%28Genetic%20Phenomena%5BMH%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%20720%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/148066)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_KRT14.html)
- HGNC Gene Family: Keratins, type I (http://www.genenames.org/cgi-bin/genefamilies/set/608)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=6416)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/3861)
What other names do people use for the KRT14 gene or gene products?
- cytokeratin 14
- keratin 14
- keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)
- Keratin, type I cytoskeletal 14
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding KRT14?
intermediate filaments ;
You may find definitions for these and many other terms in the Genetics Home Reference
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/20199538?dopt=Abstract)
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/21375516?dopt=Abstract)
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/19040520?dopt=Abstract)
- 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. Epub 2006 Aug 25. (http://www.ncbi.nlm.nih.gov/pubmed/16960809?dopt=Abstract)
- 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. Epub 2007 Nov 29. (http://www.ncbi.nlm.nih.gov/pubmed/18049449?dopt=Abstract)
- Müller FB, Küster 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. (http://www.ncbi.nlm.nih.gov/pubmed/16786515?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/3861)
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/16098032?dopt=Abstract)
- 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. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12655565?dopt=Abstract)
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/16439965?dopt=Abstract)
- 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. (http://www.ncbi.nlm.nih.gov/pubmed/20180888?dopt=Abstract)
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.