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ALDOB

Chr 9q31.1

aldolase, fructose-bisphosphate B

MANE:
ENST00000647789.2

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Cholestasis

    BIALLELIC, autosomal or pseudoautosomal
  • Glycogen storage disease

    BIALLELIC, autosomal or pseudoautosomal
  • Ketotic hypoglycaemia

    BIALLELIC, autosomal or pseudoautosomal
  • Likely inborn error of metabolism

    BIALLELIC, autosomal or pseudoautosomal
  • Neonatal cholestasis

    BIALLELIC, autosomal or pseudoautosomal
  • Undiagnosed metabolic disorders

    BIALLELIC, autosomal or pseudoautosomal
  • Childhood onset dystonia, chorea or related movement disorder

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

  • hereditary fructose intolerance

    0.85
  • hereditary disease

    0.52
  • acute liver failure

    0.46
  • disorder of glycogen metabolism

    0.45
  • carbohydrate metabolism disease

    0.33
  • hepatocellular carcinoma

    0.12
  • neoplasm

    0.11
  • Genu valgum

    0.11
  • Genu varum

    0.11
  • nonpapillary renal cell carcinoma

    0.10

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

Protein function (UniProt)

Fructose-bisphosphate aldolase B

Catalyzes the aldol cleavage of fructose 1,6-biphosphate to form two triosephosphates dihydroxyacetone phosphate and D-glyceraldehyde 3-phosphate in glycolysis as well as the reverse stereospecific aldol addition reaction in gluconeogenesis. In fructolysis, metabolizes fructose 1-phosphate derived from the phosphorylation of dietary fructose by fructokinase into dihydroxyacetone phosphate and D-glyceraldehyde (PubMed:10970798, PubMed:12205126, PubMed:20848650). Acts as an adapter independently of its enzymatic activity, exerts a tumor suppressor role by stabilizing the ternary complex with G6PD and TP53 to inhibit G6PD activity and keep oxidative pentose phosphate metabolism in check (PubMed:35122041)

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.