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KRT6C gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

KRT6C gene

The KRT6C gene encodes keratin 6c, a protein that forms intermediate filaments to provide structural strength and resilience to the skin.

Normal Function

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.

Health Conditions Related to Genetic Changes

Pachyonychia congenita

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.

Known mutations include:

  • A substitution of the amino acid lysine for glutamic acid at position 472 (Glu472Lys or E472K).
  • Deletions of one or more amino acids from the keratin 6c protein.

All known KRT6C 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. This leads to:

  • Severe, painful blisters and calluses caused by normal activities like walking.
  • Abnormal production of excess keratin by fragile skin cells, worsening skin problems.
  • Disrupted growth and function of other tissues, such as hair follicles and nails.

Other Names for This Gene

  • CK-6C
  • CK-6E
  • cytokeratin-6C
  • cytokeratin-6E
  • K2C6C_HUMAN
  • K6C
  • K6E
  • keratin 6C, type II
  • keratin 6E
  • keratin K6h
  • keratin, type II cytoskeletal 6C
  • keratin-6C
  • KRT6E
  • type-II keratin Kb12

Genomic Location

The KRT6C gene is found on chromosome 12.

Frequently Asked Questions

t least four mutations in the KRT6C gene have been identified as causative for pachyonychia congenita. The most well-documented is a substitution where the amino acid lysine replaces glutamic acid at position 472 (Glu472Lys or E472K). Other known mutations include deletions of one or more amino acids from the keratin 6c protein. All these changes alter the protein's structure, preventing it from forming stable intermediate filaments.
Pachyonychia congenita is a lifelong condition, and symptoms typically become apparent within the first few months of life. While the underlying genetic defect is permanent, the severity of symptoms can fluctuate. The condition is not necessarily "progressive" in the sense of spreading to new body parts, but the cumulative effect of friction and trauma can lead to worsening calluses and blisters if protective measures are not consistently maintained.
While both KRT6A and KRT6C mutations cause pachyonychia congenita, they affect different keratin proteins that serve similar structural roles. KRT6C mutations, such as the Glu472Lys substitution, disrupt the assembly of keratin intermediate filaments in the skin, leading to cell fragility. Although the clinical presentation of blisters and calluses is similar, the specific genetic origin can influence the severity of symptoms and the pattern of nail involvement, making genetic testing important for precise classification.
When the keratin 6c protein is defective, skin cells become fragile and are easily damaged by everyday mechanical stress like walking. In response to this chronic injury, the skin attempts to repair itself by producing excess keratin. This overproduction, combined with the underlying structural weakness, results in the formation of painful, thickened calluses and hyperkeratosis, which are hallmark signs of the condition.
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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