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KRT6C

KRT6C

Reviewed December 2015

What is the official name of the KRT6C gene?

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

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

Read more about gene names and symbols on the About page.

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 intermediate 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? in the Handbook.

How are changes in the KRT6C gene related to health conditions?

pachyonychia congenita - caused by mutations in the KRT6C gene

At least four mutations in the KRT6C gene have been found to cause 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.

One of the mutations associated with pachyonychia congenita 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. 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 severe, painful blisters and calluses. Additionally, fragile skin cells may abnormally produce more keratin in response to damage, which makes the skin problems worse. Defective keratin 6c 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.

Where is the KRT6C gene located?

Cytogenetic Location: 12q13.13

Molecular Location on chromosome 12: base pairs 52,468,516 to 52,473,785

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBIThis link leads to a site outside Genetics Home Reference.)

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 52,468,516 to base pair 52,473,785 on chromosome 12.

See How do geneticists indicate the location of a gene? 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 6C
  • keratin 6E
  • keratin K6h
  • keratin, type II cytoskeletal 6C
  • KRT6E
  • type-II keratin Kb12

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding KRT6C?

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

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (6 links)

 

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? in the Handbook.

 
Reviewed: December 2015
Published: February 8, 2016