STS

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Autosomal recessive congenital ichthyosis

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Corneal dystrophy

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• DDG2P

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Ichthyosis and erythrokeratoderma

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Likely inborn error of metabolism

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Palmoplantar keratodermas

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

• Undiagnosed metabolic disorders

  X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

• Proteinuric renal disease

  X-LINKED: hemizygous mutation in males, biallelic mutations in females

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Disease associations (Open Targets)

• x-linked ichthyosis with steryl-sulfatase deficiency

  0.77

• recessive X-linked ichthyosis

  0.76

• syndromic recessive X-linked ichthyosis

  0.55

• autosomal recessive congenital ichthyosis

  0.46

• ichthyosis

  0.38

• hereditary disease

  0.19

• colorectal carcinoma

  0.08

• breast carcinoma

  0.04

• breast cancer

  0.04

• endometriosis

  0.04

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

Protein function (UniProt)