SLURP1

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Ichthyosis and erythrokeratoderma

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

• Palmoplantar keratoderma and erythrokeratodermas

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

• Palmoplantar keratodermas

  BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Disease associations (Open Targets)

• mal de Meleda

  0.81

• epidermolytic palmoplantar keratoderma, 1

  0.38

• hereditary palmoplantar keratoderma

  0.37

• Palmoplantar keratoderma

  0.37

• diffuse palmoplantar keratoderma

  0.37

• dermatophytosis

  0.22

• subarachnoid hemorrhage

  0.14

• neoplasm

  0.09

• gastric carcinoma

  0.09

• posterior cortical atrophy

  0.07

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

Protein function (UniProt)