KRT6B

Reviewed August 2012

What is the official name of the KRT6B gene?

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

KRT6B is the gene's official symbol. The KRT6B gene is also known by other names, listed below.

What is the normal function of the KRT6B gene?

The KRT6B gene provides instructions for making a protein called keratin 6b or K6b. 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 6b 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.

Keratin 6b partners with a similar protein, keratin 17, 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 6b is also among several keratins involved in wound healing.

Does the KRT6B gene share characteristics with other genes?

The KRT6B 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 KRT6B gene related to health conditions?

pachyonychia congenita - caused by mutations in the KRT6B gene

At least four mutations in the KRT6B gene have been identified in people with pachyonychia congenita. These mutations either change single protein building blocks (amino acids) in keratin 6b or delete a small number of amino acids from the protein.

The KRT6B gene mutations responsible for pachyonychia congenita change the structure of keratin 6b, preventing it from interacting effectively with keratin 17 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 6b 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.

Where is the KRT6B gene located?

Cytogenetic Location: 12q13.13

Molecular Location on chromosome 12: base pairs 52,840,434 to 52,845,909

The KRT6B gene is located on the long (q) arm of chromosome 12 at position 13.13.

More precisely, the KRT6B gene is located from base pair 52,840,434 to base pair 52,845,909 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 KRT6B?

You and your healthcare professional may find the following resources about KRT6B 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 KRT6B (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=3854%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=((KRT6B%5BTIAB%5D)%20OR%20(keratin%206B%5BTIAB%5D)%20OR%20(cytokeratin%206B%5BTIAB%5D)%20OR%20(K6B%5BTIAB%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201800%20days%22%5Bdp%5D)
OMIM - Genetic disorder catalog (http://omim.org/entry/148042)
Research Resources - Tools for researchers
- Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/3854)
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=3854)
- HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=6444)

What other names do people use for the KRT6B gene or gene products?

CK6B
CK 6B
cytokeratin 6B
Cytokeratin-6B
K2C6B_HUMAN
K6B
K6b keratin
keratin, epidermal, type II, K6B
keratin, type II cytoskeletal 6B
KRTL1

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 KRT6B?

acids ; cysts ; cytokeratin ; domain ; gene ; intermediate filaments ; keratin ; motif ; pachyonychia ; 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

Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/3854)
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)
Sharma VM, Stein SL. A novel mutation in K6b in pachyonychia congenita type 2. J Invest Dermatol. 2007 Aug;127(8):2060-2. Epub 2007 Apr 12. (http://www.ncbi.nlm.nih.gov/pubmed/17429440?dopt=Abstract)
Smith FJ, Jonkman MF, van Goor H, Coleman CM, Covello SP, Uitto J, McLean WH. A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2. Hum Mol Genet. 1998 Jul;7(7):1143-8. (http://www.ncbi.nlm.nih.gov/pubmed/9618173?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)
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 healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.