GPAT2
Chr 2glycerol-3-phosphate acyltransferase 2, mitochondrial
Also known as: CT123
The protein transfers acyl groups to glycerol-3-phosphate to produce lysophosphatidic acid, a critical step in triacylglycerol and glycerophospholipid biosynthesis, and is also required for piRNA biosynthesis. Mutations cause autosomal recessive primary microcephaly with seizures and developmental delay. The gene shows extremely high constraint against loss-of-function variants, indicating that complete loss of protein function is likely incompatible with normal development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
GPAT2 · 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