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APOA4

Chr 11q23.3

apolipoprotein A4

MANE:
ENST00000357780.5

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Hereditary systemic amyloidosis

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Tubulointerstitial kidney disease

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • tubulointerstitial kidney disease, autosomal dominant, 2

    0.48
  • AL amyloidosis

    0.46
  • diabetes mellitus

    0.35
  • familial hyperlipidemia

    0.33
  • type 2 diabetes mellitus

    0.32
  • Hypercholesterolemia

    0.20
  • placental retention

    0.18
  • hypertriglyceridemia

    0.18
  • response to statin

    0.17
  • metabolic syndrome

    0.17

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

Protein function (UniProt)

Apolipoprotein A-IV

May have a role in chylomicrons and VLDL secretion and catabolism. Required for efficient activation of lipoprotein lipase by ApoC-II; potent activator of LCAT. Apoa-IV is a major component of HDL and chylomicrons

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.