CPT2 Gene - Carnitine Palmitoyltransferase 2
Genetics, Function, and Clinical Significance of CPT2
Gene Information Card
| Symbol | CPT2 |
|---|---|
| Full Name | Carnitine palmitoyltransferase 2 |
| Gene Type | protein coding |
| Chromosomal Location | 1p32.3 |
| NCBI Gene ID | 1376 ncbi.nlm.nih.gov/gene/1376 |
| Ensembl ID | ENSG00000109924 |
| UniProt ID | P23786 |
| OMIM ID | 600650 |
| HGNC ID | 2330 |
| Aliases | CPTASE, CPT1, CPT2, carnitine palmitoyltransferase II |
Description
The CPT2 gene encodes carnitine palmitoyltransferase 2, a mitochondrial enzyme that plays a critical role in fatty acid oxidation. It catalyzes the conversion of long-chain acylcarnitine to acyl-CoA inside the mitochondrial matrix, a key step in the carnitine shuttle. Mutations in CPT2 cause carnitine palmitoyltransferase II deficiency, a metabolic disorder with variable clinical presentations.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Carnitine palmitoyltransferase II deficiency, lethal neonatal | Loss-of-function mutations in CPT2 lead to impaired fatty acid oxidation, causing energy deficiency and toxic metabolite accumulation. | OMIM #608836; ClinVar |
| Carnitine palmitoyltransferase II deficiency, infantile | Same mechanism as neonatal form but with later onset and less severe phenotype. | OMIM #600649; ClinVar |
| Carnitine palmitoyltransferase II deficiency, myopathic | Milder mutations (often missense) reduce enzyme activity, leading to exercise-induced muscle pain and rhabdomyolysis. | OMIM #255110; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 20.1 | High |
| Heart | 15.3 | Medium |
| Skeletal Muscle | 12.8 | Medium |
| Kidney | 10.5 | Medium |
| Brain | 5.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 18.4 | Liver cancer cell line |
| A549 | 12.1 | Lung carcinoma |
| MCF7 | 8.9 | Breast cancer |
| K562 | 6.3 | Leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.338C>T (p.Ser113Leu) | Missense | Common in myopathic form | Reduced enzyme activity |
| c.534C>T (p.Arg178Trp) | Missense | Rare | Impaired catalytic function |
| c.1238G>A (p.Arg413His) | Missense | Reported in infantile form | Severe enzyme deficiency |
| c.1511_1512del (p.Glu504fs) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Most CPT2 mutations are loss-of-function, reducing or abolishing enzyme activity, leading to impaired fatty acid oxidation.
Gain of Function (GOF)
No gain-of-function mutations have been reported for CPT2.
Dominant Negative (DN)
No dominant-negative effects are known; CPT2 deficiency is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • carnitine O-palmitoyltransferase activity | • palmitoyltransferase activity |
| • mitochondrial matrix | • fatty acid beta-oxidation |
| • lipid metabolism |
Pathways
• Fatty acid oxidation
• Carnitine shuttle
Protein Summary
Carnitine palmitoyltransferase 2 (CPT2) is a 658-amino acid protein localized to the inner mitochondrial membrane. It is a key enzyme in the carnitine shuttle, converting long-chain acylcarnitines back to acyl-CoAs for beta-oxidation. CPT2 deficiency disrupts energy production, particularly during fasting or exercise, leading to clinical symptoms ranging from muscle weakness to metabolic crises.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CPT2 Knockout HEK293 Cell Line | EDJ-KQ11897 | Human | 1376 | Details Get a Quote |
| CPT2 Knockout A-549 Cell Line | EDJ-KQ40352 | Human | 1376 | Details Get a Quote |
| CPT2 Knockout HCT 116 Cell Line | EDJ-KQ40353 | Human | 1376 | Details Get a Quote |
| CPT2 Knockout HeLa Cell Line | EDJ-KQ40354 | Human | 1376 | Details Get a Quote |
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