APOB

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Additional findings health related

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Additional findings health related - children

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Familial hypercholesterolaemia

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Familial hypercholesterolaemia (GMS)

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Intestinal failure or congenital diarrhoea

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal

• Childhood onset dystonia, chorea or related movement disorder

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Disease associations (Open Targets)

• hypercholesterolemia, autosomal dominant, type B

  0.81

• Hypercholesterolemia

  0.80

• familial hypobetalipoproteinemia 1

  0.80

• familial hypercholesterolemia

  0.78

• metabolic disease

  0.72

• hypobetalipoproteinemia

  0.69

• coronary artery disorder

  0.65

• Disorder of lipid metabolism

  0.64

• cardiovascular disorder

  0.62

• hyperlipidemia

  0.59

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

Protein function (UniProt)

Diseases associated with APOB

Curated MONDO disease pages that list APOB among their top associated genes.

• coronary artery disorderRare
• cardiovascular disorderRare
• metabolic dysfunction-associated steatotic liver diseaseRare
• metabolic diseaseRare