| GENE NAME | CPT2 |
| CHROMOSOME | 1 |
| ENSEMBL ID | ENSG00000157184 |
| ENTREZ ID | 1376 |
| UNIPROT ACCESSION NUMBER | P23786 |
| GO MOLECULAR FUNCTION | carnitine O-octanoyltransferase activity; protein binding; carnitine O-palmitoyltransferase activity |
| ESSENTIAL IN MOUSE | None |
| PATHWAYS | hsa03320; hsa04714; R-HSA-556833; hsa01212; R-HSA-1430728; R-HSA-1989781; R-HSA-400206; R-HSA-200425; hsa00071; R-HSA-8978868 |
| 3 combinations linked to CPT2 | OLI461; OLI221; OLI810 |
| 3 variants linked to CPT2 | CPT2:c.365C>T, p.Ser122Phe; CPT2:p.Ser113Leu; CPT2:c.1369A>T, p.Lys457Ter |
| 3 diseases linked to CPT2 | Glycogen storage disease due to muscle glycogen phosphorylase deficiency; Recurrent exertional rhabdomyolysis; Familial acute necrotizing encephalopathy |