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AGPAT3

Chr 21q22.3

1-acylglycerol-3-phosphate O-acyltransferase 3

Aliases:
LPAAT-gamma, LPAAT3, LPLAT3
MANE:
ENST00000291572.13

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal
  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • Intellectual disability

    0.38
  • prostate carcinoma

    0.28
  • drug allergy

    0.21
  • neurodevelopmental disorder

    0.18
  • inherited retinal dystrophy

    0.17
  • adverse effect

    0.15
  • idiopathic generalized epilepsy

    0.15
  • tooth disorder

    0.15
  • retinitis pigmentosa

    0.09
  • Cone rod dystrophy

    0.09

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

Protein function (UniProt)

1-acyl-sn-glycerol-3-phosphate acyltransferase gamma

Converts 1-acyl-sn-glycerol-3-phosphate (lysophosphatidic acid or LPA) into 1,2-diacyl-sn-glycerol-3-phosphate (phosphatidic acid or PA) by incorporating an acyl moiety at the sn-2 position of the glycerol backbone (PubMed:21173190). Acts on LPA containing saturated or unsaturated fatty acids C16:0-C20:4 at the sn-1 position using C18:1, C20:4 or C18:2-CoA as the acyl donor (PubMed:21173190). Also acts on lysophosphatidylcholine, lysophosphatidylinositol and lysophosphatidylserine using C18:1 or C20:4-CoA (PubMed:21173190). Has a preference for arachidonoyl-CoA as a donor (By similarity). Also has a modest lysophosphatidylinositol acyltransferase (LPIAT) activity, converts lysophosphatidylinositol (LPI) into phosphatidylinositol (By similarity)

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.