Carnitine palmitoyltransferase II

Carnitine palmitoyltransferase 2
Identifiers
Symbols	CPT2; CPT1; CPTASE
External IDs	OMIM: 600650 MGI: 109176 HomoloGene: 77 GeneCards: CPT2 Gene
EC number	2.3.1.21
Gene Ontology Molecular function • carnitine O-palmitoyltransferase activity • carnitine O-palmitoyltransferase activity • acyltransferase activity • transferase activity Cellular component • mitochondrion • mitochondrial inner membrane • mitochondrial inner membrane • membrane Biological process • fatty acid metabolic process • fatty acid beta-oxidation • transport • carnitine shuttle • cellular lipid metabolic process • regulation of fatty acid oxidation Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	1376	12896
Ensembl	ENSG00000157184	ENSMUSG00000028607
UniProt	P23786	Q3TFS0
RefSeq (mRNA)	NM_000098.2	NM_009949.2
RefSeq (protein)	NP_000089.1	NP_034079.2
Location (UCSC)	Chr 1: 53.66 – 53.68 Mb	Chr 4: 107.58 – 107.6 Mb
PubMed search	[1]	[2]

Carnitine O-palmitoyltransferase 2, mitochondrial is an enzyme that in humans is encoded by the CPT2 gene.

Carnitine palmitoyltransferase II precursor (CPT2) is a nuclear protein which is transported to the mitochondrial inner membrane. CPT2 together with carnitine palmitoyltransferase I oxidizes long-chain fatty acids in the mitochondria. Defects in this gene are associated with mitochondrial long-chain fatty-acid (LCFA) oxidation disorders and carnitine palmitoyltransferase II deficiency.

Acyl-CoA from cytosol to the mitochondrial matrix

Further reading

• Bonnefont JP, Demaugre F, Prip-Buus C et al (2000). "Carnitine palmitoyltransferase deficiencies". Mol. Genet. Metab. 68 (4): 424–440. doi:10.1006/mgme.1999.2938. PMID 10607472. 
• van der Leij FR (2000). "Genomics of the human carnitine acyltransferase genes". Mol. Genet. Metab. 71 (1–2): 139–153. doi:10.1006/mgme.2000.3055. PMID 11001805. 
• Sigauke E, Rakheja D, Kitson K, Bennett MJ (2003). "Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review". Lab. Invest. 83 (11): 1543–1554. doi:10.1097/01.LAB.0000098428.51765.83. PMID 14615409. 
• Taroni F, Verderio E, Fiorucci S et al (1992). "Molecular characterization of inherited carnitine palmitoyltransferase II deficiency". Proc. Natl. Acad. Sci. U.S.A. 89 (18): 8429–8433. doi:10.1073/pnas.89.18.8429. PMC 49933. PMID 1528846. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=49933. 
• Finocchiaro G, Taroni F, Rocchi M et al (1992). "cDNA cloning, sequence analysis, and chromosomal localization of human carnitine palmitoyltransferase". Proc. Natl. Acad. Sci. U.S.A. 88 (23): 10981–10981. doi:10.1073/pnas.88.23.10981. PMC 53056. PMID 1961767. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=53056. 
• Finocchiaro G, Taroni F, Rocchi M et al (1991). "cDNA cloning, sequence analysis, and chromosomal localization of the gene for human carnitine palmitoyltransferase". Proc. Natl. Acad. Sci. U.S.A. 88 (2): 661–665. doi:10.1073/pnas.88.2.661. PMC 50872. PMID 1988962. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=50872. 
• Finocchiaro G, Colombo I, DiDonato S (1991). "Purification, characterization and partial amino acid sequences of carnitine palmitoyl-transferase from human liver". FEBS Lett. 274 (1–2): 163–166. doi:10.1016/0014-5793(90)81354-Q. PMID 2174799. 
• Verderio E, Cavadini P, Montermini L et al (1995). "Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations". Hum. Mol. Genet. 4 (1): 19–29. doi:10.1093/hmg/4.1.19. PMID 7711730. 
• Britton CH, Schultz RA, Zhang B et al (1995). "Human liver mitochondrial carnitine palmitoyltransferase I: characterization of its cDNA and chromosomal localization and partial analysis of the gene". Proc. Natl. Acad. Sci. U.S.A. 92 (6): 1984–1988. doi:10.1073/pnas.92.6.1984. PMC 42407. PMID 7892212. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=42407. 
• Gellera C, Verderio E, Floridia G et al (1995). "Assignment of the human carnitine palmitoyltransferase II gene (CPT1) to chromosome 1p32". Genomics 24 (1): 195–197. doi:10.1006/geno.1994.1605. PMID 7896283. 
• Montermini L, Wang H, Verderio E et al (1994). "Identification of 5' regulatory regions of the human carnitine palmitoyltransferase II gene". Biochim. Biophys. Acta 1219 (1): 237–40. PMID 8086471. 
• Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene 138 (1–2): 171–174. doi:10.1016/0378-1119(94)90802-8. PMID 8125298. 
• Taroni F, Verderio E, Dworzak F et al (1993). "Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients". Nat. Genet. 4 (3): 314–320. doi:10.1038/ng0793-314. PMID 8358442. 
• Verderio E, Cavadini P, Pandolfo M et al (1993). "Two novel sequence polymorphisms of the human carnitine palmitoyltransferase II (CPT1) gene". Hum. Mol. Genet. 2 (3): 334–334. doi:10.1093/hmg/2.3.334. PMID 8499929. 
• Bonnefont JP, Taroni F, Cavadini P et al (1996). "Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression". Am. J. Hum. Genet. 58 (5): 971–8. PMC 1914604. PMID 8651281. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1914604. 
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K et al (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1–2): 149–156. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149. 
• Wataya K, Akanuma J, Cavadini P et al (1998). "Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: functional analysis and association with polymorphic haplotypes and two clinical phenotypes". Hum. Mutat. 11 (5): 377–386. doi:10.1002/(SICI)1098-1004(1998)11:5<377::AID-HUMU5>3.0.CO;2-E. PMID 9600456. 
• Yang BZ, Ding JH, Dewese T et al (1998). "Identification of four novel mutations in patients with carnitine palmitoyltransferase II (CPT II) deficiency". Mol. Genet. Metab. 64 (4): 229–236. doi:10.1006/mgme.1998.2711. PMID 9758712. 
• Taggart RT, Smail D, Apolito C, Vladutiu GD (1999). "Novel mutations associated with carnitine palmitoyltransferase II deficiency". Hum. Mutat. 13 (3): 210–220. doi:10.1002/(SICI)1098-1004(1999)13:3<210::AID-HUMU5>3.0.CO;2-0. PMID 10090476.