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KRT17 gene

keratin 17
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Normal Function

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 intermediate 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.

Health Conditions Related to Genetic Changes

Pachyonychia congenita

More than 20 mutations in the KRT17 gene have been identified in people with pachyonychia congenita, a rare condition that primarily affects the nails and skin. In most cases, this condition becomes apparent within the first few months of life. 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 other tissues, such as the hair follicles and nails, which explains why the signs and symptoms of pachyonychia congenita can also affect these other parts of the body.

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Steatocystoma multiplex

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 (described above). 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.

More About This Health Condition

Other Names for This Gene

  • CK-17
  • cytokeratin-17
  • K17
  • K1C17_HUMAN
  • keratin 17, type I
  • keratin, type I cytoskeletal 17
  • keratin-17

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Research Resources

References

  • 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. Citation on PubMed
  • 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. Citation on PubMed
  • 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. Citation on PubMed
  • 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. Citation on PubMed
  • 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. Citation on PubMed
  • 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. Citation on PubMed
  • 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. Citation on PubMed
  • 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. Citation on PubMed
  • Wilson NJ, O'Toole EA, Milstone LM, Hansen CD, Shepherd AA, Al-Asadi E, Schwartz ME, McLean WH, Sprecher E, Smith FJ. The molecular genetic analysis of the expanding pachyonychia congenita case collection. Br J Dermatol. 2014 Aug;171(2):343-55. doi: 10.1111/bjd.12958. Epub 2014 Aug 6. Citation on PubMed or Free article on PubMed Central
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