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KRT14 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

KRT14 gene

The KRT14 gene provides instructions for making keratin 14, a protein essential for the structural integrity of the skin and the development of sweat glands and fingerprints.

Normal Function

The KRT14 gene provides instructions for making a protein called keratin 14. This protein is produced in cells called keratinocytes in the outer layer of the skin (the epidermis). Keratin 14 partners with keratin 5 to form keratin intermediate filaments. These filaments assemble into strong networks that attach keratinocytes together and anchor the epidermis to underlying skin layers, providing strength and resiliency against friction and physical stress.

Researchers believe keratin 14 may also play a role in the formation of sweat glands and the development of patterned ridges on the skin of the hands and feet, known as dermatoglyphs, which form the basis for unique fingerprints.

Health Conditions Related to Genetic Changes

Epidermolysis bullosa simplex

More than 60 mutations in the KRT14 gene have been identified in people with epidermolysis bullosa simplex, a condition causing fragile skin that blisters easily. These mutations disrupt the assembly of the keratin intermediate filament network, making keratinocytes fragile and prone to rupture. Minor trauma, such as rubbing or scratching, can cause these cells to break down, resulting in painful, fluid-filled blisters.

  • Dowling-Meara type: The most severe form, usually resulting from changes in regions of keratin 14 essential for filament assembly.
  • Localized and generalized types: Milder forms often caused by changes affecting less critical regions of the protein.

Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis

Several mutations in the KRT14 gene cause Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis (NFJS/DPR). This is a rare form of ectodermal dysplasia, a group of conditions characterized by abnormal development of ectodermal tissues like skin, hair, nails, teeth, and sweat glands.

These mutations likely reduce the amount of functional keratin 14, making keratinocytes more likely to self-destruct (apoptosis). This loss of cells alters the development of ectodermal tissues, leading to the skin and nail problems characteristic of the condition. It remains unclear how this shortage relates to the net-like pattern of dark skin coloring (reticulate hyperpigmentation) seen in these patients.

Other Names for This Gene

  • CK14
  • cytokeratin 14
  • EBS3
  • EBS4
  • K14
  • K1C14_HUMAN
  • keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)
  • keratin 14, type I
  • Keratin, type I cytoskeletal 14
  • Keratin-14

Frequently Asked Questions

Epidermolysis bullosa simplex (EBS) caused by KRT14 mutations is usually inherited in an autosomal dominant pattern, meaning a single altered copy of the gene can cause disease. If one parent has a pathogenic KRT14 variant, each child has a 50% chance of inheriting the mutation and potentially developing EBS. However, the severity can vary even within the same family, depending on the specific mutation and other genetic factors. Genetic counseling and targeted testing are recommended before family planning.
sk your clinician for a targeted KRT14 sequencing panel or a comprehensive epidermolysis bullosa gene panel that includes KRT14. The test analyzes the coding regions and splice sites of the gene to identify pathogenic variants. Results are usually reported as “pathogenic,” “likely pathogenic,” “variant of uncertain significance,” or “benign.” If a variant is found, a genetics professional can interpret its relevance to your symptoms.
Yes. Keep the skin moisturized with fragrance‑free emollients to maintain barrier function, avoid tight clothing and rough fabrics, use soft cotton socks and gloves, and gently trim fingernails to prevent scratching. For active play, consider protective padding on elbows and knees and use non‑adhesive dressings on areas prone to blistering. Promptly clean any new blisters with mild antiseptic solution and cover with a sterile, non‑stick dressing to prevent infection.
If a pathogenic KRT14 variant is known in the family, prenatal diagnosis is possible via chorionic villus sampling (10‑12 weeks) or amniocentesis (15‑18 weeks) with targeted molecular analysis. Pre‑implantation genetic testing (PGT‑M) during IVF is another option to select embryos without the mutation. Discuss these options with a maternal‑fetal medicine specialist and a genetic counselor to weigh benefits, risks, and personal values.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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