ALAS2

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Cutaneous photosensitivity with a likely genetic cause

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

• Cytopenias and congenital anaemias

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

• Erythropoietic protoporphyria, mild variant

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

• Iron metabolism disorders - NOT common HFE mutations

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

• 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)

• Non-acute porphyrias

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

• Rare anaemia

  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)

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Disease associations (Open Targets)

• X-linked sideroblastic anemia 1

  0.83

• X-linked erythropoietic protoporphyria

  0.76

• hereditary disease

  0.19

• diabetes mellitus

  0.17

• androgenetic alopecia

  0.06

• necrotizing enterocolitis

  0.06

• autosomal dominant macrothrombocytopenia

  0.05

• Beta-thalassemia - X-linked thrombocytopenia

  0.05

• beta-thalassemia-X-linked thrombocytopenia syndrome

  0.05

• acute erythroid leukemia

  0.05

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

Protein function (UniProt)