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Target intelligence / Profile preview
Carnitine palmitoyltransferase 2 (CPT2)
- Target
- CPT2
- Molecular classification
- Enzyme, Transferase
01
Overview
Carnitine palmitoyltransferase 2 (CPT2) is a mitochondrial enzyme essential for the metabolism of long-chain fatty acids. It facilitates the transport of these fatty acids into the mitochondria for beta-oxidation, a process vital for energy production, especially during fasting or increased energy demand. Mutations in CPT2 cause Carnitine Palmitoyltransferase II deficiency, leading to impaired fat breakdown and a range of symptoms depending on the severity of the deficiency.
02
Mechanism of action
N/A
03
Biological functions
Fatty acid metabolismEnergy productionMitochondrial transport
04
Disease associations
Carnitine Palmitoyltransferase II deficiencyHypoketotic hypoglycemiaMyalgiaMuscle weaknessLiver dysfunctionCardiomyopathy
05
Safety considerations
Hypoketotic hypoglycemiaLiver dysfunctionCardiomyopathyMuscle damage
06
Biomarkers
Long-chain acylcarnitinesCPT2 mutations
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