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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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CPT2
carnitine palmitoyltransferase 2
Chromosome 1 · 1p32.3
NCBI Gene: 1376Ensembl: ENSG00000157184.7HGNC: HGNC:2330UniProt: A0A140VK13
131PubMed Papers
24Diseases
2Drugs
226Pathogenic Variants
FUNCTIONAL ROLE
Transporter
RESEARCH IMPACT
Variant-Rich
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
carnitine metabolic processprotein bindingmitochondrioncarnitine O-acyltransferase activitycarnitine palmitoyl transferase II deficiency, myopathic formcarnitine palmitoyl transferase II deficiency, severe infantile formcarnitine palmitoyl transferase II deficiency, neonatal formcarnitine palmitoyltransferase II deficiency
✦AI Summary

CPT2 (carnitine palmitoyltransferase 2) is a mitochondrial enzyme essential for fatty acid β-oxidation that reconverts acylcarnitines back into acyl-CoA esters, enabling long-chain fatty acids to undergo β-oxidation within mitochondria 1. The enzyme is active with medium (C8-C12) and long-chain (C14-C18) acyl-CoA esters and plays a crucial role in maintaining cellular energy homeostasis through fatty acid metabolism. CPT2 activity is regulated by post-translational modifications, particularly succinylation at Lys424, which when increased leads to enzymatic inactivation and accumulation of fatty acyl-carnitines 2. Dysregulation of CPT2 has significant pathological implications across multiple diseases. Downregulation occurs in obesity-driven hepatocellular carcinoma, where it enables cancer cells to escape lipotoxicity and promotes carcinogenesis through acylcarnitine accumulation 1. In ischemic stroke, CPT2 deficiency leads to harmful acylcarnitine buildup that damages astrocytic mitochondria and compromises neuronal support 3. The enzyme is also implicated in glioblastoma radioresistance, where fatty acid oxidation pathways including CPT2 fuel tumor survival 4. Clinically, CPT2 deficiency causes inherited metabolic disorders ranging from mild myopathy to severe neonatal forms, while therapeutic targeting shows promise for diabetic cardiomyopathy and cancer treatment 5.

Sources cited
1
CPT2 reconverts acylcarnitines back into acyl-CoA esters for fatty acid β-oxidation and downregulation promotes hepatocarcinogenesis
PMID: 29437870
2
CPT2 is regulated by succinylation at Lys424, which when increased leads to enzymatic inactivation
PMID: 38718533
3
CPT2 deficiency leads to acylcarnitine accumulation that damages astrocytic mitochondria in ischemic stroke
PMID: 37572732
4
CPT2 is part of fatty acid oxidation pathways that fuel glioblastoma radioresistance
PMID: 35314680
5
CPT2 deficiency causes inherited neuromuscular disorders with varying severity
PMID: 34602496
Disease Associationsⓘ24
carnitine palmitoyl transferase II deficiency, myopathic formOpen Targets
0.83Strong
carnitine palmitoyl transferase II deficiency, severe infantile formOpen Targets
0.80Strong
carnitine palmitoyl transferase II deficiency, neonatal formOpen Targets
0.77Strong
carnitine palmitoyltransferase II deficiencyOpen Targets
0.67Moderate
genetic disorderOpen Targets
0.50Moderate
Acute rhabdomyolysisOpen Targets
0.49Moderate
angina pectorisOpen Targets
0.37Weak
cardiovascular diseaseOpen Targets
0.37Weak
Abnormality of the musculatureOpen Targets
0.34Weak
Abnormality of the nervous systemOpen Targets
0.34Weak
SeizureOpen Targets
0.34Weak
flatfootOpen Targets
0.30Weak
Generalized hypotoniaOpen Targets
0.30Weak
Genu valgumOpen Targets
0.30Weak
Hyperextensibility at elbowOpen Targets
0.30Weak
Hyperextensibility of the finger jointsOpen Targets
0.30Weak
Hyperextensible hand jointsOpen Targets
0.30Weak
Myopathic faciesOpen Targets
0.30Weak
rhabdomyolysisOpen Targets
0.29Weak
hypertrophic cardiomyopathyOpen Targets
0.16Weak
Carnitine palmitoyltransferase 2 deficiency, infantileUniProt
Carnitine palmitoyltransferase 2 deficiency, lethal neonatalUniProt
Carnitine palmitoyltransferase 2 deficiency, myopathic, stress-inducedUniProt
Encephalopathy, acute, infection-induced, 4UniProt
Pathogenic Variants226
NM_000098.3(CPT2):c.451C>T (p.Arg151Trp)Pathogenic
Carnitine palmitoyltransferase II deficiency|Encephalopathy, acute, infection-induced, susceptibility to, 4|Carnitine palmitoyl transferase II deficiency, severe infantile form|Carnitine palmitoyl transferase II deficiency, neonatal form;Encephalopathy, acute, infection-induced, susceptibility to, 4;Carnitine palmitoyl transferase II deficiency, severe infantile form;Carnitine palmitoyl transferase II deficiency, myopathic form|Carnitine palmitoyl transferase II deficiency, myopathic form
★★☆☆2026→ Residue 151
NM_000098.3(CPT2):c.725dup (p.His242fs)Likely pathogenic
Encephalopathy, acute, infection-induced, susceptibility to, 4|Carnitine palmitoyl transferase II deficiency, neonatal form
★★☆☆2026→ Residue 242
NM_000098.3(CPT2):c.1239_1240del (p.Lys414fs)Pathogenic
not provided|Carnitine palmitoyltransferase II deficiency|Carnitine palmitoyl transferase II deficiency, severe infantile form|Carnitine palmitoyl transferase II deficiency, myopathic form|Encephalopathy, acute, infection-induced, susceptibility to, 4;Carnitine palmitoyl transferase II deficiency, severe infantile form;Carnitine palmitoyl transferase II deficiency, myopathic form;Carnitine palmitoyl transferase II deficiency, neonatal form|Encephalopathy, acute, infection-induced, susceptibility to, 4|Acute rhabdomyolysis
★★☆☆2026→ Residue 414
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu)Pathogenic
Carnitine palmitoyl transferase II deficiency, myopathic form|Carnitine palmitoyl transferase II deficiency, neonatal form|not provided|Carnitine palmitoyltransferase II deficiency|Carnitine palmitoyl transferase II deficiency, severe infantile form|Inborn genetic diseases|Carnitine palmitoyl transferase II deficiency, neonatal form;Carnitine palmitoyl transferase II deficiency, severe infantile form;Carnitine palmitoyl transferase II deficiency, myopathic form;Encephalopathy, acute, infection-induced, susceptibility to, 4|Rhabdomyolysis|Carnitine palmitoyl transferase II deficiency, neonatal form;Carnitine palmitoyl transferase II deficiency, severe infantile form|Abnormality of the musculature|Encephalopathy, acute, infection-induced, susceptibility to, 4|Ovarian serous cystadenocarcinoma|Thymoma|Thyroid cancer, nonmedullary, 1|Melanoma|Lung cancer|Clear cell carcinoma of kidney|Acute myeloid leukemia|Nonpapillary renal cell carcinoma|Hepatocellular carcinoma|Adrenocortical carcinoma, hereditary
★★☆☆2026→ Residue 113
NM_000098.3(CPT2):c.680C>T (p.Pro227Leu)Pathogenic
Carnitine palmitoyl transferase II deficiency, neonatal form|Carnitine palmitoyltransferase II deficiency|not provided|Carnitine palmitoyl transferase II deficiency, severe infantile form|Carnitine palmitoyl transferase II deficiency, neonatal form;Carnitine palmitoyl transferase II deficiency, severe infantile form;Carnitine palmitoyl transferase II deficiency, myopathic form;Encephalopathy, acute, infection-induced, susceptibility to, 4|Encephalopathy, acute, infection-induced, susceptibility to, 4|CPT2-related disorder
★★☆☆2026→ Residue 227
NM_000098.3(CPT2):c.1507C>T (p.Arg503Cys)Pathogenic
Carnitine palmitoyl transferase II deficiency, myopathic form|Carnitine palmitoyltransferase II deficiency|Carnitine palmitoyl transferase II deficiency, neonatal form;Carnitine palmitoyl transferase II deficiency, severe infantile form|Carnitine palmitoyl transferase II deficiency, neonatal form;Carnitine palmitoyl transferase II deficiency, severe infantile form;Carnitine palmitoyl transferase II deficiency, myopathic form;Encephalopathy, acute, infection-induced, susceptibility to, 4|Encephalopathy, acute, infection-induced, susceptibility to, 4|Carnitine palmitoyl transferase II deficiency, severe infantile form|not provided|CPT2-related disorder
★★☆☆2026→ Residue 503
NM_000098.3(CPT2):c.149C>A (p.Pro50His)Pathogenic
Carnitine palmitoyl transferase II deficiency, myopathic form|Carnitine palmitoyl transferase II deficiency, severe infantile form|Carnitine palmitoyltransferase II deficiency|not provided|Carnitine palmitoyl transferase II deficiency, neonatal form;Carnitine palmitoyl transferase II deficiency, severe infantile form;Carnitine palmitoyl transferase II deficiency, myopathic form;Encephalopathy, acute, infection-induced, susceptibility to, 4|Encephalopathy, acute, infection-induced, susceptibility to, 4
★★☆☆2026→ Residue 50
NM_000098.3(CPT2):c.1891C>T (p.Arg631Cys)Pathogenic
Carnitine palmitoyl transferase II deficiency, severe infantile form|Carnitine palmitoyltransferase II deficiency|Carnitine palmitoyl transferase II deficiency, myopathic form|not provided|Carnitine palmitoyl transferase II deficiency, neonatal form;Carnitine palmitoyl transferase II deficiency, severe infantile form;Carnitine palmitoyl transferase II deficiency, myopathic form;Encephalopathy, acute, infection-induced, susceptibility to, 4|Encephalopathy, acute, infection-induced, susceptibility to, 4|Carnitine palmitoyl transferase II deficiency, neonatal form;Carnitine palmitoyl transferase II deficiency, severe infantile form;Carnitine palmitoyl transferase II deficiency, myopathic form
★★☆☆2026→ Residue 631
NM_000098.3(CPT2):c.452G>A (p.Arg151Gln)Pathogenic
Carnitine palmitoyltransferase II deficiency|not provided|Carnitine palmitoyl transferase II deficiency, severe infantile form|Carnitine palmitoyl transferase II deficiency, severe infantile form;Carnitine palmitoyl transferase II deficiency, myopathic form;Encephalopathy, acute, infection-induced, susceptibility to, 4;Carnitine palmitoyl transferase II deficiency, neonatal form|Encephalopathy, acute, infection-induced, susceptibility to, 4
★★☆☆2026→ Residue 151
NM_000098.3(CPT2):c.1148T>A (p.Phe383Tyr)Pathogenic
Carnitine palmitoyl transferase II deficiency, myopathic form|Carnitine palmitoyl transferase II deficiency, severe infantile form|Carnitine palmitoyl transferase II deficiency, neonatal form|Carnitine palmitoyltransferase II deficiency|Carnitine palmitoyl transferase II deficiency, neonatal form;Carnitine palmitoyl transferase II deficiency, severe infantile form;Carnitine palmitoyl transferase II deficiency, myopathic form;Encephalopathy, acute, infection-induced, susceptibility to, 4|Carnitine palmitoyl transferase II deficiency, neonatal form;Carnitine palmitoyl transferase II deficiency, severe infantile form|Seizure;Abnormality of the nervous system|Encephalopathy, acute, infection-induced, susceptibility to, 4|not provided
★★☆☆2026→ Residue 383
NM_000098.3(CPT2):c.98del (p.Gln33fs)Pathogenic
Carnitine palmitoyltransferase II deficiency|Carnitine palmitoyl transferase II deficiency, severe infantile form|not provided|Encephalopathy, acute, infection-induced, susceptibility to, 4;Carnitine palmitoyl transferase II deficiency, severe infantile form;Carnitine palmitoyl transferase II deficiency, myopathic form;Carnitine palmitoyl transferase II deficiency, neonatal form|Encephalopathy, acute, infection-induced, susceptibility to, 4|Carnitine palmitoyl transferase II deficiency, severe infantile form;Carnitine palmitoyl transferase II deficiency, neonatal form
★★☆☆2026→ Residue 33
NM_000098.3(CPT2):c.1883A>C (p.Tyr628Ser)Pathogenic
Carnitine palmitoyl transferase II deficiency, severe infantile form|Carnitine palmitoyl transferase II deficiency, myopathic form|Carnitine palmitoyltransferase II deficiency|Carnitine palmitoyl transferase II deficiency, neonatal form;Carnitine palmitoyl transferase II deficiency, severe infantile form;Carnitine palmitoyl transferase II deficiency, myopathic form
★★☆☆2026→ Residue 628
NM_000098.3(CPT2):c.1511C>T (p.Pro504Leu)Pathogenic
Carnitine palmitoyltransferase II deficiency|Encephalopathy, acute, infection-induced, susceptibility to, 4|Carnitine palmitoyl transferase II deficiency, severe infantile form|not provided|Autosomal recessive CPT2-related disorders
★★☆☆2026→ Residue 504
NM_000098.3(CPT2):c.75del (p.Ser26fs)Pathogenic
Carnitine palmitoyl transferase II deficiency, severe infantile form|Carnitine palmitoyl transferase II deficiency, neonatal form|Carnitine palmitoyl transferase II deficiency, myopathic form|Carnitine palmitoyltransferase II deficiency|Encephalopathy, acute, infection-induced, susceptibility to, 4;Carnitine palmitoyl transferase II deficiency, neonatal form;Carnitine palmitoyl transferase II deficiency, severe infantile form;Carnitine palmitoyl transferase II deficiency, myopathic form|Encephalopathy, acute, infection-induced, susceptibility to, 4
★★☆☆2026→ Residue 26
NM_000098.3(CPT2):c.1369A>T (p.Lys457Ter)Pathogenic
Carnitine palmitoyl transferase II deficiency, severe infantile form|Carnitine palmitoyltransferase II deficiency|Carnitine palmitoyl transferase II deficiency, severe infantile form;Carnitine palmitoyl transferase II deficiency, myopathic form;Carnitine palmitoyl transferase II deficiency, neonatal form;Encephalopathy, acute, infection-induced, susceptibility to, 4|not provided|CPT2-related disorder|Encephalopathy, acute, infection-induced, susceptibility to, 4|Inborn genetic diseases|Carnitine palmitoyl transferase II deficiency, severe infantile form;Carnitine palmitoyl transferase II deficiency, myopathic form;Carnitine palmitoyl transferase II deficiency, neonatal form
★★☆☆2026→ Residue 457
NM_000098.3(CPT2):c.886C>T (p.Arg296Ter)Pathogenic
not provided|Carnitine palmitoyl transferase II deficiency, severe infantile form|Carnitine palmitoyltransferase II deficiency|Encephalopathy, acute, infection-induced, susceptibility to, 4;Carnitine palmitoyl transferase II deficiency, severe infantile form;Carnitine palmitoyl transferase II deficiency, myopathic form;Carnitine palmitoyl transferase II deficiency, neonatal form|Carnitine palmitoyl transferase II deficiency, myopathic form|Carnitine palmitoyl transferase II deficiency, severe infantile form;Carnitine palmitoyl transferase II deficiency, neonatal form|Encephalopathy, acute, infection-induced, susceptibility to, 4
★★☆☆2026→ Residue 296
NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys)Pathogenic
Carnitine palmitoyl transferase II deficiency, severe infantile form|Carnitine palmitoyl transferase II deficiency, myopathic form|Carnitine palmitoyltransferase II deficiency|Carnitine palmitoyl transferase II deficiency, neonatal form|Carnitine palmitoyl transferase II deficiency, neonatal form;Carnitine palmitoyl transferase II deficiency, severe infantile form;Carnitine palmitoyl transferase II deficiency, myopathic form;Encephalopathy, acute, infection-induced, susceptibility to, 4|not provided|Encephalopathy, acute, infection-induced, susceptibility to, 4|CPT2-related disorder
★★☆☆2026→ Residue 120
NM_000098.3(CPT2):c.110_111dup (p.Ser38fs)Pathogenic
Carnitine palmitoyl transferase II deficiency, myopathic form|Carnitine palmitoyl transferase II deficiency, severe infantile form|Carnitine palmitoyl transferase II deficiency, neonatal form|Carnitine palmitoyltransferase II deficiency|not provided|Encephalopathy, acute, infection-induced, susceptibility to, 4|Inborn genetic diseases|Encephalopathy, acute, infection-induced, susceptibility to, 4;Carnitine palmitoyl transferase II deficiency, neonatal form;Carnitine palmitoyl transferase II deficiency, severe infantile form;Carnitine palmitoyl transferase II deficiency, myopathic form
★★☆☆2026→ Residue 38
NM_000098.3(CPT2):c.370C>T (p.Arg124Ter)Pathogenic
not provided|Carnitine palmitoyl transferase II deficiency, myopathic form|Carnitine palmitoyl transferase II deficiency, severe infantile form|Carnitine palmitoyl transferase II deficiency, neonatal form|Carnitine palmitoyltransferase II deficiency|Carnitine palmitoyl transferase II deficiency, severe infantile form;Carnitine palmitoyl transferase II deficiency, neonatal form|Carnitine palmitoyl transferase II deficiency, severe infantile form;Carnitine palmitoyl transferase II deficiency, myopathic form;Encephalopathy, acute, infection-induced, susceptibility to, 4;Carnitine palmitoyl transferase II deficiency, neonatal form|Encephalopathy, acute, infection-induced, susceptibility to, 4
★★☆☆2026→ Residue 124
NM_000098.3(CPT2):c.341-2A>GPathogenic
Carnitine palmitoyltransferase II deficiency|not provided|Encephalopathy, acute, infection-induced, susceptibility to, 4|Carnitine palmitoyl transferase II deficiency, severe infantile form|Carnitine palmitoyl transferase II deficiency, severe infantile form;Carnitine palmitoyl transferase II deficiency, myopathic form;Encephalopathy, acute, infection-induced, susceptibility to, 4;Carnitine palmitoyl transferase II deficiency, neonatal form
★★☆☆2026
View on ClinVar ↗
Drug Targets2
PERHEXILINEApproved
Carnitine O-palmitoyltransferase 1, muscle isoform inhibitor
cardiovascular disease
PERHEXILINE MALEATEUNKNOWN
Carnitine O-palmitoyltransferase 1, muscle isoform inhibitor
Related Genes
HADHBProtein interaction99%HADHAProtein interaction99%ACADLProtein interaction98%ACADSProtein interaction98%ACADVLProtein interaction98%ACOX1Protein interaction98%
Tissue Expression6 tissues
Liver
100%
Heart
33%
Brain
18%
Lung
15%
Ovary
12%
Bone Marrow
8%
Gene Interaction Network
Click a node to explore
CPT2HADHBHADHAACADLACADSACADVLACOX1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt P23786
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.04LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.78 [0.59–1.04]
RankingsWhere CPT2 stands among ~20K protein-coding genes
  • #3,553of 20,598
    Most Researched131 · top quartile
  • #918of 1,025
    FDA-Approved Drug Targets1
  • #289of 5,498
    Most Pathogenic Variants226 · top 10%
  • #10,330of 17,882
    Most Constrained (LOEUF)1.04
Genes detectedCPT2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Sirt5 improves cardiomyocytes fatty acid metabolism and ameliorates cardiac lipotoxicity in diabetic cardiomyopathy via CPT2 de-succinylation.
PMID: 38718533
Redox Biol · 2024
1.00
2
Fatty acid oxidation fuels glioblastoma radioresistance with CD47-mediated immune evasion.
PMID: 35314680
Nat Commun · 2022
0.90
3
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis · 2022
0.80
4
Lipidomic analysis identifies long-chain acylcarnitine as a target for ischemic stroke.
PMID: 37572732
J Adv Res · 2024
0.70
5
Targeting nucleotide metabolic pathways in colorectal cancer by integrating scRNA-seq, spatial transcriptome, and bulk RNA-seq data.
PMID: 38594466
Funct Integr Genomics · 2024
0.60