KRT71

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

• Ectodermal dysplasia

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Non-syndromic hypotrichosis

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

• Woolly hair

  0.55

• isolated familial wooly hair disorder

  0.55

• neurodegenerative disease

  0.33

• androgenetic alopecia

  0.25

• hypotrichosis

  0.19

• uncombable hair syndrome

  0.11

• uncombable hair syndrome 3

  0.11

• syringocystadenoma papilliferum

  0.10

• 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)