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FERMT1 gene

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

FERMT1 gene

The FERMT1 gene provides instructions for making the protein kindlin-1, which is essential for cell-matrix adhesion and the structural integrity of the skin and mucosal linings.

Normal Function

The FERMT1 gene provides instructions for making a protein called kindlin-1. This protein is found in epithelial cells, which are the cells that line the surfaces and cavities of the body. In the skin, kindlin-1 plays a critical role in specialized cells called keratinocytes, which are the major component of the outer layer of the skin (the epidermis).

Kindlin-1 is part of cell structures called focal adhesions. These structures are involved in linking the cell's internal framework (the cytoskeleton) to the lattice of proteins surrounding cells (the extracellular matrix). This linking is known as cell-matrix adhesion. Kindlin-1 attaches to and activates proteins called integrins, which directly connect the cytoskeleton with the extracellular matrix and help transmit chemical signals into the cell. As part of focal adhesions, kindlin-1 is involved in cell growth, division, and migration.

Health Conditions Related to Genetic Changes

Kindler epidermolysis bullosa

More than 70 variants in the FERMT1 gene have been identified in people with Kindler epidermolysis bullosa (EB). This disorder is a rare type of epidermolysis bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily.

Most variants in the FERMT1 gene prevent the production of any functional kindlin-1. A lack of this protein disrupts many essential cell functions:

  • Skin fragility: Keratinocytes without kindlin-1 have an abnormal structure and cannot grow or divide normally. They are also less able to attach the epidermis to the underlying dermis, making the skin prone to blistering.
  • Mucosal involvement: A lack of kindlin-1 in epithelial cells of the mucosae (the moist linings of the mouth, eyes, esophagus, intestines, genitals, and urinary system) causes damage that makes these tissues extremely fragile.
  • Cancer risk: People with Kindler EB have an increased risk of developing a form of cancer called squamous cell carcinoma.

Other Names for This Gene

  • C20orf42
  • DTGCU2
  • fermitin family homolog 1
  • FLJ20116
  • KIND1
  • kindlerin
  • kindlin 1
  • kindlin syndrome protein
  • unc-112-related protein 1
  • UNC112 related protein 1
  • UNC112A
  • URP1

Frequently Asked Questions

Kindler EB typically presents with skin blistering that starts in infancy or early childhood. Blisters are often triggered by minor trauma or friction and may appear on the hands, feet, and mucous membranes. Over time, the skin develops atrophic scars, milia (small white bumps), and a characteristic “butterfly” pattern of skin fragility. Patients may also experience photosensitivity, leading to hyperpigmentation or erythema after sun exposure. The combination of blistering, scarring, and photosensitivity distinguishes Kindler EB from other forms of epidermolysis bullosa.
Diagnosis is based on clinical findings and confirmed by a skin biopsy showing characteristic histopathology (e.g., subepidermal blistering with a mixed inflammatory infiltrate). Genetic testing is essential to confirm a FERMT1 mutation. A targeted FERMT1 panel or whole‑exome sequencing can identify pathogenic variants. Because FERMT1 mutations are inherited in an autosomal dominant pattern, family members may also be tested. Early genetic confirmation helps guide management and informs genetic counseling.
Use gentle, non‑adhesive dressings (e.g., silicone‑based or hydrocolloid) to protect fragile skin. Avoid tape or adhesives that can pull on the skin; instead, secure dressings with medical‑grade adhesives or use a “no‑tape” approach. Keep the skin moisturized with fragrance‑free, hypoallergenic emollients to maintain elasticity. For blister management, allow small blisters to drain naturally or use a sterile needle to puncture and evacuate fluid, then cover with a non‑stick dressing. Avoid tight clothing or footwear that causes friction. Regularly inspect the skin for signs of infection and seek prompt care if redness, warmth, or purulent drainage develops.
Research is exploring gene‑replacement strategies using adeno‑associated virus (AAV) vectors to deliver functional FERMT1 to skin cells, but these are still in preclinical stages. Cell‑based therapies, like autologous keratinocyte grafts engineered to express kindlin‑1, have shown promise in animal models. Protein replacement therapy is not yet available. Patients interested in experimental treatments should contact specialized centers that conduct clinical trials for epidermolysis bullosa.
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.