AGPAT3

Chr 21

1-acylglycerol-3-phosphate O-acyltransferase 3

Also known as: 1-AGPAT 3, LPAAT-GAMMA1, LPAAT3, LPLAT3

NCBI Gene: 56894 ENSG00000160216 UniProt: Q9NRZ7 OMIM: 614794

The protein encoded by AGPAT3 is an acyltransferase that converts lysophosphatidic acid to phosphatidic acid in the de novo phospholipid biosynthetic pathway and also acts on other lysophospholipids including lysophosphatidylcholine and lysophosphatidylinositol. Mutations cause autosomal recessive congenital generalized lipodystrophy type 9, characterized by severe loss of subcutaneous and visceral adipose tissue from birth leading to metabolic complications including insulin resistance and hypertriglyceridemia. The gene is highly constrained against loss-of-function variants in the general population.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is an acyltransferase that converts lysophosphatidic acid into phosphatidic acid, which is the second step in the de novo phospholipid biosynthetic pathway. The encoded protein may be an integral membrane protein. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.14

LOEUF· LoF intol.

LOF

Mechanism· G2P