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Genetics Home Reference: your guide to understanding genetic conditions
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KRT6C

Reviewed August 2012

What is the official name of the KRT6C gene?

The official name of this gene is “keratin 6C.”

KRT6C is the gene's official symbol. The KRT6C gene is also known by other names, listed below.

What is the normal function of the KRT6C gene?

The KRT6C gene provides instructions for making a protein called keratin 6c or K6c. 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 6c is found in the skin, although it is unknown which other tissues may produce this protein.

Keratin 6c is a component of 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.

Does the KRT6C gene share characteristics with other genes?

The KRT6C 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 KRT6C gene related to health conditions?

focal palmoplantar keratoderma - caused by mutations in the KRT6C gene

At least three KRT6C gene mutations have been found to cause focal palmoplantar keratoderma. This condition causes painful blisters and calluses to develop on the soles of the feet and, less commonly, on the palms of the hands. It is sometimes considered a mild form (variant) of pachyonychia congenita, a related skin disorder that also results from mutations in keratin genes. However, most people with focal palmoplantar keratoderma do not have the severe nail abnormalities or other skin problems that are characteristic of pachyonychia congenita.

One of the mutations associated with focal palmoplantar keratoderma changes a single protein building block (amino acid) in the keratin 6c protein. Specifically, this mutation replaces the amino acid glutamic acid with the amino acid lysine at protein position 472 (written as Glu472Lys or E472K). The other KRT6C gene mutations delete one or more amino acids from the keratin 6c protein.

All of the known KRT6C gene mutations alter the structure of keratin 6c and interfere with the assembly of the keratin intermediate filament network. Skin cells with defective keratin are fragile and prone to damage, making the skin less resistant to friction and minor trauma. The soles of the feet experience a significant amount of friction compared with many other parts of the body and must bear the body's weight, which may help explain why blisters and calluses occur primarily in this area in people with focal palmoplantar keratoderma.

Where is the KRT6C gene located?

Cytogenetic Location: 12q13.13

Molecular Location on chromosome 12: base pairs 52,468,515 to 52,473,784

The KRT6C gene is located on the long (q) arm of chromosome 12 at position 13.13.

The KRT6C gene is located on the long (q) arm of chromosome 12 at position 13.13.

More precisely, the KRT6C gene is located from base pair 52,468,515 to base pair 52,473,784 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 KRT6C?

You and your healthcare professional may find the following resources about KRT6C helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the KRT6C gene or gene products?

  • CK-6C
  • CK-6E
  • cytokeratin-6C
  • cytokeratin-6E
  • K2C6C_HUMAN
  • K6C
  • K6E
  • keratin-6C
  • keratin 6E
  • keratin K6h
  • keratin, type II cytoskeletal 6C
  • KRT6E
  • type-II keratin Kb12

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 KRT6C?

acids ; amino acid ; cytokeratin ; gene ; glutamic acid ; intermediate filaments ; keratin ; keratoderma ; lysine ; mutation ; pachyonychia ; palmoplantar keratoderma ; protein ; resilience ; trauma

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Akasaka E, Nakano H, Nakano A, Toyomaki Y, Takiyoshi N, Rokunohe D, Nishikawa Y, Korekawa A, Matsuzaki Y, Mitsuhashi Y, Sawamura D. Diffuse and focal palmoplantar keratoderma can be caused by a keratin 6c mutation. Br J Dermatol. 2011 Dec;165(6):1290-2. doi: 10.1111/j.1365-2133.2011.10552.x. (http://www.ncbi.nlm.nih.gov/pubmed/21801157?dopt=Abstract)
  • Bowden PE. Mutations in a keratin 6 isomer (K6c) cause a type of focal palmoplantar keratoderma. J Invest Dermatol. 2010 Feb;130(2):336-8. doi: 10.1038/jid.2009.395. (http://www.ncbi.nlm.nih.gov/pubmed/20081885?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/286887)
  • Takahashi K, Paladini RD, Coulombe PA. Cloning and characterization of multiple human genes and cDNAs encoding highly related type II keratin 6 isoforms. J Biol Chem. 1995 Aug 4;270(31):18581-92. (http://www.ncbi.nlm.nih.gov/pubmed/7543104?dopt=Abstract)
  • Wilson NJ, Messenger AG, Leachman SA, O'Toole EA, Lane EB, McLean WH, Smith FJ. Keratin K6c mutations cause focal palmoplantar keratoderma. J Invest Dermatol. 2010 Feb;130(2):425-9. doi: 10.1038/jid.2009.215. Epub 2009 Jul 16. (http://www.ncbi.nlm.nih.gov/pubmed/19609311?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 healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: August 2012
Published: December 16, 2014