CPT2
Chr 1ADARcarnitine palmitoyltransferase 2
Also known as: CPT1, CPTASE, IIAE4
The protein is transported to the mitochondrial inner membrane where it works with carnitine palmitoyltransferase I to oxidize long-chain fatty acids. Mutations cause CPT II deficiency with autosomal recessive inheritance, presenting as lethal neonatal, infantile, or myopathic stress-induced forms, as well as susceptibility to acute infection-induced encephalopathy with autosomal dominant inheritance. The pathogenic mechanism involves impaired mitochondrial long-chain fatty acid oxidation.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and loss-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CPT2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
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