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KRT6B gene

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

KRT6B gene

The KRT6B gene provides instructions for making keratin 6b, a protein that helps maintain the structural integrity of skin, nails, hair follicles, and sebaceous glands.

Normal Function

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 intermediate 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.

Health Conditions Related to Genetic Changes

Pachyonychia congenita

At least four mutations in the KRT6B gene have been identified in people with 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. These mutations either change single amino acids in keratin 6b or delete a small number of amino acids.

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. This results in:

  • Fragile skin cells that are easily damaged and less resistant to friction and minor trauma.
  • Painful blisters and calluses, even from normal activities like walking.
  • Development of sebum-filled cysts called steatocystomas in the sebaceous glands due to abnormal keratin filaments.
  • Disrupted growth and function of other tissues, such as hair follicles and nails.

Other Names for This Gene

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

Genomic Location

The KRT6B gene is found on chromosome 12.

Frequently Asked Questions

Patients with KRT6B mutations often develop thickened, painful nails that may become discolored or brittle, along with painful calluses or blisters on the palms and soles. Skin may appear shiny, with a tendency for fissures or ulcerations that heal slowly. These signs usually appear in the first few months of life and can be confirmed by a dermatologist through clinical examination and skin biopsy.
definitive diagnosis is made by sequencing the KRT6B gene from a blood or saliva sample. Targeted next‑generation sequencing panels for keratinopathies or whole‑exome sequencing can detect missense, nonsense, or small deletion mutations. A skin biopsy may also show abnormal keratin filament organization under electron microscopy, supporting the genetic findings.
KRT6B mutations are inherited in an autosomal dominant pattern, meaning a single copy of the altered gene can cause disease. First‑degree relatives can be offered genetic counseling and testing. If a mutation is identified, they can be monitored for early signs and receive preventive care. Prenatal testing via chorionic villus sampling or amniocentesis can detect the mutation in a fetus if the mutation is known in the family.===
Management focuses on protecting the skin and nails: use of emollients, topical corticosteroids for inflammation, and protective footwear or gloves to reduce friction. For severe nail involvement, surgical removal of thickened nails or laser therapy may be considered. Pain can be managed with oral analgesics or topical lidocaine. Regular follow‑up with a dermatologist and a wound‑care specialist improves outcomes.
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.