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GenoLensGenoLens

KRT6B

Chr 12q13.13

keratin 6B

MANE:
ENST00000252252.4

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 4

    0.63
  • pachyonychia congenita

    0.62
  • facial nerve disorder

    0.20
  • hereditary disease

    0.19
  • diabetic kidney disease

    0.15
  • urolithiasis

    0.08
  • alcohol drinking

    0.08
  • bladder transitional cell carcinoma

    0.08
  • non-small cell lung carcinoma

    0.07
  • breast carcinoma

    0.06

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

Protein function (UniProt)

Keratin, type II cytoskeletal 6B

Structural component of intermediate filaments in epithelial keratinocytes. Forms heteropolymers with the type I keratins KRT16 and KRT17, assembling keratin intermediate filament networks that contributes to the structural integrity and stress resilience of stratified epithelia and appendages (PubMed:9618173). Induced during epidermal stress and wound repair, where it regulates keratinocyte migration and epithelial regeneration (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). Required for normal palmoplantar, nail unit and oral mucosa integrity (PubMed:9618173)

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.