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KRT6A

Chr 12q13.13

keratin 6A

Aliases:
CK6C, K6C, CK6D, K6D
MANE:
ENST00000330722.7

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

Disease associations (Open Targets)

  • pachyonychia congenita

    0.83
  • pachyonychia congenita 1

    0.37
  • hereditary disease

    0.19
  • skin disorder

    0.18
  • basal cell carcinoma

    0.17
  • skin cancer

    0.14
  • non-melanoma skin carcinoma

    0.13
  • common wart

    0.10
  • skin neoplasm

    0.09
  • non-small cell lung carcinoma

    0.09

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

Protein function (UniProt)

Keratin, type II cytoskeletal 6A

Structural component of intermediate filaments in epithelial keratinocytes. Forms heteropolymers with the type I keratins KRT16 and KRT17, assembling into keratin intermediate filament networks that contributes to the structural integrity and stress resilience of stratified epithelia, particularly in epidermis, nail bed and oral mucosa (PubMed:11886499, PubMed:17719747, PubMed:7545493). Rapidly induced in wound-edge keratinocytes and participates in cytoskeletal reorganization during re-epithelialization (By similarity). Negatively regulates collective keratinocyte migration by stabilizing non-muscle myosin MYH9 and desmoplakin, thereby altering cell-cell and cell-matrix adhesion and reducing the speed and directionality of epithelial sheet movement during wound repair (By similarity). Also limits epithelial migration by inhibiting SRC activity during wound repair (By similarity). Required for normal palmoplantar, nail unit and oral mucosa integrity (PubMed:11886499, PubMed:17719747, PubMed:7545493)

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.