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The official name of this gene is “keratin 6B, type II.”
KRT6B is the gene's official symbol. The KRT6B gene is also known by other names, listed below.
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.
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.
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.
Cytogenetic Location: 12q13.13
Molecular Location on chromosome 12: base pairs 52,446,650 to 52,452,125
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 52,446,650 to base pair 52,452,125 on chromosome 12.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about KRT6B helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
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://ghr.nlm.nih.gov/glossary).
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.