LPCAT1

Chr 5

lysophosphatidylcholine acyltransferase 1

Also known as: AGPAT10, AGPAT9, AYTL2, LPCAT-1, LPLAT8, PFAAP3, lpcat, lysoPAFAT

NCBI Gene: 79888 ENSG00000153395 UniProt: Q8NF37

The protein encoded by this gene is an acyltransferase that converts lysophosphatidylcholine to phosphatidylcholine and is involved in lung surfactant synthesis and platelet-activating factor biosynthesis. Mutations cause autosomal recessive disorders affecting multiple systems including severe respiratory distress and neurological abnormalities. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.478), suggesting some intolerance to complete protein loss.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the 1-acyl-sn-glycerol-3-phosphate acyltransferase family of proteins. The encoded enzyme plays a role in phospholipid metabolism, specifically in the conversion of lysophosphatidylcholine to phosphatidylcholine in the presence of acyl-CoA. This process is important in the synthesis of lung surfactant and platelet-activating factor (PAF). Elevated expression of this gene may contribute to the progression of oral squamous cell, prostate, breast, and other human cancers. [provided by RefSeq, Sep 2016]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.48

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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