full name
carnitine palmitoyltransferase 2

synonyms
CPT1, CPTASE, IIAE4, CPT2, ENSG00000157184

HGNC
HGNC:2330

Entrez Gene
Gene:1376

ENSEMBL
ENSG00000157184

location
chr: 1
start: 53662101
stop: 53679869
strand: +

OMIM
OMIM:600650: CPT2 (Autosomal recessive inheritance)
OMIM:600649: CPT II deficiency, infantile
OMIM:608836: CPT II deficiency, lethal neonatal
OMIM:255110: CPT II deficiency, myopathic, stress-induced
OMIM:614212: {Encephalopathy, acute, infection-induced, 4, susceptibility to}

transcripts
NM_000098.2

pathways
Fatty Acid Beta Oxidation [NCBI:198865] [WikiPathways:WP143]
Fatty acid degradation [NCBI:82935] [KEGG:hsa00071] [PUBMED:869535]
Fatty acid metabolism [NCBI:868084] [KEGG:hsa01212]
Fatty acid, triacylglycerol, and ketone body metabolism [NCBI:1270010] [REACTOME:R-HSA-535734]
Import of palmitoyl-CoA into the mitochondrial matrix [NCBI:1270014] [REACTOME:R-HSA-200425] [PUBMED:11257506]
Metabolism [NCBI:1269956] [REACTOME:R-HSA-1430728]
Metabolism of lipids and lipoproteins [NCBI:1270001] [REACTOME:R-HSA-556833]
Mitochondrial LC-Fatty Acid Beta-Oxidation [NCBI:198817] [WikiPathways:WP368]
PPAR signaling pathway [NCBI:83042] [KEGG:hsa03320] [PUBMED:15673477] [PUBMED:14999402] [PUBMED:15828222] [PUBMED:16601267] [PUBMED:10529898] [PUBMED:15828220] [PUBMED:15828223] [PUBMED:16511590] [PUBMED:11921433] [PUBMED:16476485] [PUBMED:16360030] [PUBMED:15828221]
PPARA activates gene expression [NCBI:1270030] [REACTOME:R-HSA-1989781] [PUBMED:10529898] [PUBMED:18288277] [PUBMED:11330046] [PUBMED:20936127] [PUBMED:14999402]
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) [NCBI:1270029] [REACTOME:R-HSA-400206] [PUBMED:18288277] [PUBMED:16476485] [PUBMED:16503871] [PUBMED:10529898]
mitochondrial L-carnitine shuttle [NCBI:545348] [BIOCYC:HUMAN_PWY-6111] [PUBMED:11802770] [PUBMED:11257506] [PUBMED:17458181] [PUBMED:16615913]