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GenoLensGenoLens

KRT25

Chr 17q21.2

keratin 25

MANE:
ENST00000312150.5

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Ectodermal dysplasia

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • wooly hair, autosomal recessive 3

    0.69
  • Woolly hair

    0.49
  • isolated familial wooly hair disorder

    0.39
  • hypotrichosis 8

    0.35
  • uncombable hair syndrome

    0.11
  • oculocutaneous albinism type 6

    0.11
  • ringed hair disease

    0.11
  • uncombable hair syndrome 3

    0.11
  • pili gemini

    0.10
  • pili bifurcati

    0.10

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

Protein function (UniProt)

Keratin, type I cytoskeletal 25

Essential for the proper assembly of type I and type II keratin protein complexes and formation of keratin intermediate filaments in the inner root sheath (irs) (By similarity). Plays a role in the cytoskeleton organization (PubMed:26902920)

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.