Skip to content
GenoLensGenoLens

KRT9

Chr 17q21.2

keratin 9

Aliases:
EPPK, K9, CK-9
MANE:
ENST00000246662.9

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)

  • epidermolytic palmoplantar keratoderma, 1

    0.83
  • palmoplantar keratoderma, epidermolytic

    0.68
  • Localized epidermolytic hyperkeratosis

    0.51
  • Palmoplantar keratoderma

    0.44
  • hereditary disease

    0.38
  • hereditary palmoplantar keratoderma

    0.37
  • Familial prostate cancer

    0.11
  • prostate cancer

    0.11
  • erythrokeratodermia variabilis

    0.09
  • Non-epidermolytic palmoplantar keratoderma

    0.08

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

Protein function (UniProt)

Keratin, type I cytoskeletal 9

Structural component of intermediate filaments in suprabasal keratinocytes of palmoplantar epidermis. Forms heteropolymers with a type II keratin, assembling into keratin intermediate filament networks that maintain the mechanical integrity of the 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.