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KRT6C

Chr 12q13.13

keratin 6C

MANE:
ENST00000252250.7

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Ichthyosis and erythrokeratoderma

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Palmoplantar keratoderma and erythrokeratodermas

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Palmoplantar keratodermas

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • Non-epidermolytic palmoplantar keratoderma

    0.62
  • Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering

    0.55
  • palmoplantar keratoderma, nonepidermolytic, focal or diffuse

    0.54
  • focal palmoplantar keratoderma

    0.42
  • epidermolytic palmoplantar keratoderma, 1

    0.38
  • hereditary palmoplantar keratoderma

    0.37
  • Palmoplantar keratoderma

    0.37
  • Nail dystrophy

    0.37
  • hereditary disease

    0.19
  • metabolic syndrome

    0.07

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Keratin, type II cytoskeletal 6C

Structural component of intermediate filaments in epithelial keratinocytes. Forms heteropolymers with the type I keratins, likely including KRT16 and KRT17, assembling keratin intermediate filament networks that contributes to the structural framework and mechanical resilience of stratified epithelia, particularly in palmoplantar epidermis

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.