Details for Gene CPT2

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 OLI221; OLI461; 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

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