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GenoLensGenoLens

KRT81

Chr 12q13.13

keratin 81

Aliases:
Hb-1
MANE:
ENST00000327741.9

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Ectodermal dysplasia

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • monilethrix

    0.67
  • monilethrix-2

    0.42
  • monilethrix-1

    0.41
  • neoplasm

    0.09
  • lung adenocarcinoma

    0.06
  • breast carcinoma

    0.05
  • breast cancer

    0.04
  • squamous cell carcinoma

    0.03
  • ovarian carcinoma

    0.03
  • ovarian cancer

    0.03

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

Protein function (UniProt)

Keratin, type II cuticular Hb1

Structural component of intermediate filaments in the hair cortex (PubMed:10504448, PubMed:9402962). Forms obligate heterodimers with type I hair keratins, which assemble into keratin intermediate filaments that contribute to the structural integrity and mechanical strength of the hair shaft (PubMed:10504448, PubMed:9402962)

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.