Reviewed August 2012
What is the official name of the KRT6A gene?
The official name of this gene is “keratin 6A, type II.”
KRT6A is the gene's official symbol. The KRT6A gene is also known by other names, listed below.
What is the normal function of the KRT6A gene?
The KRT6A gene provides instructions for making a protein called keratin 6a or K6a. Keratins are a group of tough, fibrous proteins that form the structural framework of certain cells, particularly cells that make up the skin, hair, nails, and similar tissues. Keratin 6a is produced in the nails, the skin on the palms of the hands and soles of the feet, and the oral mucosa that lines the inside of the mouth.
Keratin 6a partners with a similar protein, keratin 16, to form molecules called keratin intermediate filaments. These filaments assemble into dense networks that provide strength and resilience to the skin, nails, and other tissues. Networks of keratin filaments protect these tissues from being damaged by friction and other everyday physical stresses. Keratin 6a is also among several keratins involved in wound healing.
Does the KRT6A gene share characteristics with other genes?
The KRT6A 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 KRT6A gene related to health conditions?
- pachyonychia congenita - caused by mutations in the KRT6A gene
About 40 mutations in the KRT6A gene have been identified in people with pachyonychia congenita. Most of these mutations change single protein building blocks (amino acids) in keratin 6a. A few mutations add or delete a small number of amino acids.
The KRT6A gene mutations responsible for pachyonychia congenita change the structure of keratin 6a, preventing it from interacting effectively with keratin 16 and interfering with the assembly of the keratin intermediate filament network. Without this network, skin cells become fragile and are easily damaged, making the skin less resistant to friction and minor trauma. Even normal activities such as walking can cause skin cells to break down, resulting in the formation of severe, painful blisters and calluses. Additionally, fragile skin cells may abnormally produce more keratin in response to damage, which makes the skin problems worse. Defective keratin 6a also disrupts the growth and function of cells in the nails and oral mucosa, which explains why the signs and symptoms of pachyonychia congenita also affect these tissues.
Where is the KRT6A gene located?
Cytogenetic Location: 12q13.13
Molecular Location on chromosome 12: base pairs 52,487,173 to 52,493,396
The KRT6A gene is located on the long (q) arm of chromosome 12 at position 13.13.
More precisely, the KRT6A gene is located from base pair 52,487,173 to base pair 52,493,396 on chromosome 12.
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 KRT6A?
You and your healthcare professional may find the following resources about KRT6A helpful.
Educational resources - Information pages
- Molecular Biology of the Cell (fourth edition, 2002): Keratin Filaments in Epithelial Cells (image) (http://www.ncbi.nlm.nih.gov/books/NBK26862/figure/A2988/)
- The Cell: A Molecular Approach (second edition, 2000): Intermediate Filaments (http://www.ncbi.nlm.nih.gov/books/NBK9834/)
- Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1280)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for KRT6A (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3853%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%28KRT6A%5BTIAB%5D%29%20OR%20%28keratin%206A%5BTIAB%5D%29%29%20OR%20%28K6A%5BTIAB%5D%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/148041)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_KRT6A.html)
- HGNC Gene Family: Keratins, type II (http://www.genenames.org/cgi-bin/genefamilies/set/609)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=6443)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/3853)
What other names do people use for the KRT6A gene or gene products?
- 56 cytoskeletal type II keratin
- CK 6A
- cytokeratin 6A
- keratin 6A
- keratin, epidermal type II, K6A
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 KRT6A?
intermediate filaments ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Bowden PE, Haley JL, Kansky A, Rothnagel JA, Jones DO, Turner RJ. Mutation of a type II keratin gene (K6a) in pachyonychia congenita. Nat Genet. 1995 Jul;10(3):363-5. (http://www.ncbi.nlm.nih.gov/pubmed/7545493?dopt=Abstract)
- Liao H, Sayers JM, Wilson NJ, Irvine AD, Mellerio JE, Baselga E, Bayliss SJ, Uliana V, Fimiani M, Lane EB, McLean WH, Leachman SA, Smith FJ. A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita. J Dermatol Sci. 2007 Dec;48(3):199-205. Epub 2007 Aug 24. (http://www.ncbi.nlm.nih.gov/pubmed/17719747?dopt=Abstract)
- McLean WH, Hansen CD, Eliason MJ, Smith FJ. The phenotypic and molecular genetic features of pachyonychia congenita. J Invest Dermatol. 2011 May;131(5):1015-7. doi: 10.1038/jid.2011.59. Epub 2011 Mar 24. Review. (http://www.ncbi.nlm.nih.gov/pubmed/21430705?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/3853)
- Smith FJ, Liao H, Cassidy AJ, Stewart A, Hamill KJ, Wood P, Joval I, van Steensel MA, Björck E, Callif-Daley F, Pals G, Collins P, Leachman SA, Munro CS, McLean WH. The genetic basis of pachyonychia congenita. J Investig Dermatol Symp Proc. 2005 Oct;10(1):21-30. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16250206?dopt=Abstract)
- Spaunhurst KM, Hogendorf AM, Smith FJ, Lingala B, Schwartz ME, Cywinska-Bernas A, Zeman KJ, Tang JY. Pachyonychia congenita patients with mutations in KRT6A have more extensive disease compared with patients who have mutations in KRT16. Br J Dermatol. 2012 Apr;166(4):875-8. doi: 10.1111/j.1365-2133.2011.10745.x. (http://www.ncbi.nlm.nih.gov/pubmed/22098151?dopt=Abstract)
- Terrinoni A, Smith FJ, Didona B, Canzona F, Paradisi M, Huber M, Hohl D, David A, Verloes A, Leigh IM, Munro CS, Melino G, McLean WH. Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita. J Invest Dermatol. 2001 Dec;117(6):1391-6. (http://www.ncbi.nlm.nih.gov/pubmed/11886499?dopt=Abstract)
- Wilson NJ, Leachman SA, Hansen CD, McMullan AC, Milstone LM, Schwartz ME, McLean WH, Hull PR, Smith FJ. A large mutational study in pachyonychia congenita. J Invest Dermatol. 2011 May;131(5):1018-24. doi: 10.1038/jid.2011.20. Epub 2011 Feb 17. (http://www.ncbi.nlm.nih.gov/pubmed/21326300?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.