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GenoLensGenoLens

KRT86

Chr 12q13

keratin 86

Aliases:
MNX, Hb6
MANE:
ENST00000423955.7

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Ectodermal dysplasia

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • monilethrix

    0.77
  • monilethrix-1

    0.46
  • monilethrix-2

    0.42
  • Alzheimer disease

    0.34
  • lysosomal storage disease

    0.34
  • neurodegenerative disease

    0.34
  • Parkinson disease

    0.34
  • multiple sclerosis

    0.34
  • hereditary disease

    0.19
  • lamellar ichthyosis

    0.06

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

Protein function (UniProt)

Keratin, type II cuticular Hb6

Structural component of intermediate filaments in the hair shaft (PubMed:15744029, PubMed:25557232). 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:15744029, PubMed:25557232)

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.