Carnitine palmitoyltransferase II

Carnitine palmitoyltransferase II

Carnitine palmitoyltransferase 2
Identifiers
Symbols  ; CPT1; CPTASE; IIAE4
External IDs ChEMBL: GeneCards:
EC number
RNA expression pattern
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)
PubMed search

Carnitine O-palmitoyltransferase 2, mitochondrial is an enzyme that in humans is encoded by the CPT2 gene.[1][2] 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.[2]

Acyl-CoA from cytosol to the mitochondrial matrix


See also

References

  1. ^ Minoletti F, Colombo I, Martin AL, Di Donato S, Taroni F, Finocchiaro G, Pandolfo M (Sep 1992). "Localization of the human gene for carnitine palmitoyltransferase to 1p13-p11 by nonradioactive in situ hybridization". Genomics 13 (4): 1372–1374. PMID 1339389. doi:10.1016/0888-7543(92)90076-5. 
  2. ^ a b "Entrez Gene: CPT2 carnitine palmitoyltransferase II". 

Further reading

  • Bonnefont JP, Demaugre F, Prip-Buus C et al. (2000). "Carnitine palmitoyltransferase deficiencies". Mol. Genet. Metab. 68 (4): 424–440. PMID 10607472. doi:10.1006/mgme.1999.2938. 
  • van der Leij FR (2000). "Genomics of the human carnitine acyltransferase genes". Mol. Genet. Metab. 71 (1–2): 139–153. PMID 11001805. doi:10.1006/mgme.2000.3055. 
  • 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. PMID 14615409. doi:10.1097/01.LAB.0000098428.51765.83. 
  • 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. PMC 49933. PMID 1528846. doi:10.1073/pnas.89.18.8429. 
  • 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. PMC 53056. PMID 1961767. doi:10.1073/pnas.88.23.10981. 
  • 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. PMC 50872. PMID 1988962. doi:10.1073/pnas.88.2.661. 
  • 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. PMID 2174799. doi:10.1016/0014-5793(90)81354-Q. 
  • 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. PMID 7711730. doi:10.1093/hmg/4.1.19. 
  • 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. PMC 42407. PMID 7892212. doi:10.1073/pnas.92.6.1984. 
  • 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. PMID 7896283. doi:10.1006/geno.1994.1605. 
  • 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. doi:10.1016/0167-4781(94)90280-1. 
  • 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. PMID 8125298. doi:10.1016/0378-1119(94)90802-8. 
  • 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. PMID 8358442. doi:10.1038/ng0793-314. 
  • 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. PMID 8499929. doi:10.1093/hmg/2.3.334. 
  • 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. 
  • 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. PMID 9373149. doi:10.1016/S0378-1119(97)00411-3. 
  • 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. PMID 9600456. doi:10.1002/(SICI)1098-1004(1998)11:5<377::AID-HUMU5>3.0.CO;2-E. 
  • 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. PMID 9758712. doi:10.1006/mgme.1998.2711. 
  • Taggart RT, Smail D, Apolito C, Vladutiu GD (1999). "Novel mutations associated with carnitine palmitoyltransferase II deficiency". Hum. Mutat. 13 (3): 210–220. PMID 10090476. doi:10.1002/(SICI)1098-1004(1999)13:3<210::AID-HUMU5>3.0.CO;2-0.