Reviewed August 2012
What is the official name of the KRT17 gene?
The official name of this gene is “keratin 17, type I.”
KRT17 is the gene's official symbol. The KRT17 gene is also known by other names, listed below.
What is the normal function of the KRT17 gene?
The KRT17 gene provides instructions for making a protein called keratin 17 or K17. 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 17 is produced in the nails, the hair follicles, and the skin on the palms of the hands and soles of the feet. It is also found in the skin's sebaceous glands, which produce an oily substance called sebum that normally lubricates the skin and hair.
Keratin 17 partners with a similar protein, keratin 6b, 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 17 is also among several keratins involved in wound healing.
Does the KRT17 gene share characteristics with other genes?
The KRT17 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 KRT17 gene related to health conditions?
- pachyonychia congenita - caused by mutations in the KRT17 gene
More than 20 mutations in the KRT17 gene have been identified in people with pachyonychia congenita, a condition that primarily affects the nails and skin. In most cases, this condition becomes apparent within the first few months of life, but KRT17 gene mutations are also associated with a rare form of the disorder (pachyonychia congenita tarda) that appears in adolescence or early adulthood. Most of the KRT17 gene mutations associated with pachyonychia congenita change single protein building blocks (amino acids) in keratin 17.
The KRT17 gene mutations responsible for pachyonychia congenita change the structure of keratin 17, preventing it from interacting effectively with keratin 6b 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 painful blisters and calluses. In the sebaceous glands, abnormal keratin filaments lead to the development of sebum-filled cysts called steatocystomas. Defective keratin 17 also disrupts the growth and function of cells in the nails and hair follicles, which explains why the signs and symptoms of pachyonychia congenita also affect these tissues.
- steatocystoma multiplex - caused by mutations in the KRT17 gene
At least four mutations in the KRT17 gene have been found to cause a skin disorder called hereditary steatocystoma multiplex. Researchers suggest that this condition may be a mild form (variant) of pachyonychia congenita. Like pachyonychia congenita, hereditary steatocystoma multiplex involves the development of multiple sebaceous gland cysts called steatocystomas. Most people with hereditary steatocystoma multiplex do not have the other features of pachyonychia congenita, although mild nail and dental abnormalities are possible.
The KRT17 gene mutations that cause hereditary steatocystoma multiplex change single amino acids in the keratin 17 protein, which interferes with the assembly of the keratin intermediate filament network. In the sebaceous glands, these keratin abnormalities lead to the development of steatocystomas. It is unclear why these sebum-containing cysts are typically the only feature of this disorder.
Where is the KRT17 gene located?
Cytogenetic Location: 17q21.2
Molecular Location on chromosome 17: base pairs 41,619,440 to 41,624,630
The KRT17 gene is located on the long (q) arm of chromosome 17 at position 21.2.
More precisely, the KRT17 gene is located from base pair 41,619,440 to base pair 41,624,630 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 KRT17?
You and your healthcare professional may find the following resources about KRT17 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 KRT17 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3872%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%28KRT17%5BTIAB%5D%29%20OR%20%28keratin%2017%5BTIAB%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201800%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/148069)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_KRT17.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=6427)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/3872)
What other names do people use for the KRT17 gene or gene products?
- keratin 17
- Keratin, type I cytoskeletal 17
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 KRT17?
intermediate filaments ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Covello SP, Smith FJ, Sillevis Smitt JH, Paller AS, Munro CS, Jonkman MF, Uitto J, McLean WH. Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2. Br J Dermatol. 1998 Sep;139(3):475-80. (http://www.ncbi.nlm.nih.gov/pubmed/9767294?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)
- McGowan KM, Coulombe PA. Keratin 17 expression in the hard epithelial context of the hair and nail, and its relevance for the pachyonychia congenita phenotype. J Invest Dermatol. 2000 Jun;114(6):1101-7. (http://www.ncbi.nlm.nih.gov/pubmed/10844551?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)
- McLean WH, Rugg EL, Lunny DP, Morley SM, Lane EB, Swensson O, Dopping-Hepenstal PJ, Griffiths WA, Eady RA, Higgins C, et al. Keratin 16 and keratin 17 mutations cause pachyonychia congenita. Nat Genet. 1995 Mar;9(3):273-8. (http://www.ncbi.nlm.nih.gov/pubmed/7539673?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/3872)
- Smith FJ, Coleman CM, Bayoumy NM, Tenconi R, Nelson J, David A, McLean WH. Novel keratin 17 mutations in pachyonychia congenita type 2. J Invest Dermatol. 2001 May;116(5):806-8. (http://www.ncbi.nlm.nih.gov/pubmed/11348474?dopt=Abstract)
- Smith FJ, Corden LD, Rugg EL, Ratnavel R, Leigh IM, Moss C, Tidman MJ, Hohl D, Huber M, Kunkeler L, Munro CS, Lane EB, McLean WH. Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex. J Invest Dermatol. 1997 Feb;108(2):220-3. (http://www.ncbi.nlm.nih.gov/pubmed/9008238?dopt=Abstract)
- 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)
- Smith FJ. Nail that mutation-keratin 17 defect in late-onset pachyonychia. J Invest Dermatol. 2004 Apr;122(4):x-xi. (http://www.ncbi.nlm.nih.gov/pubmed/15102104?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)
- Xiao SX, Feng YG, Ren XR, Tan SS, Li L, Wang JM, Shi YZ. A novel mutation in the second half of the keratin 17 1A domain in a large pedigree with delayed-onset pachyonychia congenita type 2. J Invest Dermatol. 2004 Apr;122(4):892-5. (http://www.ncbi.nlm.nih.gov/pubmed/15102078?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.