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CPT2 - carnitine palmitoyltransferase 2
- Synonym(s) : CPTASE
- Previous symbols and names : CPT1, Carnitine palmitoyltransferase II, carnitine palmitoyltransferase II
- Type : gene with protein product
- Chromosomal location : 1p32.3
- OMIM: 600650
- HGNC: 2330
- UniProtKB: P23786
- Genatlas: CPT2
- GenCC: CPT2
- Ensembl: ENSG00000157184
- IUPHAR-DB: -
- Reactome: P23786
- LOVD: CPT2
Diseases list
- Disease-causing germline mutation(s) in Carnitine palmitoyl transferase II deficiency, myopathic form
ORPHA:228302 
- Disease-causing germline mutation(s) in Carnitine palmitoyl transferase II deficiency, neonatal form
ORPHA:228308 - Disease-causing germline mutation(s) in Carnitine palmitoyl transferase II deficiency, severe infantile form
ORPHA:228305 - Candidate gene tested in Acute necrotizing encephalopathy of childhood
ORPHA:263524
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
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