LPCAT3
Chr 12lysophosphatidylcholine acyltransferase 3
Also known as: C3F, LPCAT, LPLAT 5, LPLAT12, LPSAT, MBOAT5, OACT5, nessy
This enzyme catalyzes the reacylation of lysophospholipids to form phosphatidylcholine, phosphatidylethanolamine, and phosphatidylserine as part of the Lands cycle phospholipid remodeling pathway, with particular importance in liver and intestinal lipid metabolism. Mutations cause autosomal recessive neurodevelopmental disorders with intellectual disability and seizures. The gene is highly constrained against loss-of-function variants (pLI 0.995), indicating that complete loss of function is likely incompatible with normal development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
120 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 43 | 0 | 43 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 41 | 12 | 0 | 53 |
Likely Benign | 0 | 0 | 0 | 3 | 3 |
Benign | 0 | 0 | 1 | 1 | 2 |
| Total | 0 | 41 | 58 | 4 | 103 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
LPCAT3 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools