Carnitine palmitoyltransferase II
This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Carnitine_palmitoyltransferase_II".

content
Carnitine palmitoyltransferase II
Identifiers
Symbol(s) CPT2; CPT1; CPTASE
External IDs OMIM: 600650 MGI: 109176 HomoloGene: 77
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 1376 12896
Ensembl ENSG00000157184 ENSMUSG00000028607
Uniprot P23786 Q3TFS0
Refseq NM_000098 (mRNA)
NP_000089 (protein)		 NM_009949 (mRNA)
NP_034079 (protein)
Location Chr 1: 53.43 - 53.63 Mb Chr 4: 107.4 - 107.42 Mb
Pubmed search [1] [2]

Carnitine palmitoyltransferase II, also known as CPT2, is a human gene.[1]

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.[1]

Acyl-CoA from cytosol to the mitochondrial matrix.gif
Acyl-CoA from cytosol to the mitochondrial matrix.gif


References

  1. ^ 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): 424–40. doi:10.1006/mgme.1999.2938. PMID 10607472. 
  • van der Leij FR, Huijkman NC, Boomsma C, et al. (2000). "Genomics of the human carnitine acyltransferase genes.". Mol. Genet. Metab. 71 (1-2): 139–53. 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): 1543–54. PMID 14615409. 
  • Minoletti F, Colombo I, Martin AL, et al. (1992). "Localization of the human gene for carnitine palmitoyltransferase to 1p13-p11 by nonradioactive in situ hybridization.". Genomics 13 (4): 1372–4. PMID 1339389. 
  • 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): 8429–33. PMID 1528846. 
  • 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. PMID 1961767. 
  • 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): 661–5. PMID 1988962. 
  • 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): 163–6. 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. 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): 1984–8. PMID 7892212. 
  • Gellera C, Verderio E, Floridia G, et al. (1995). "Assignment of the human carnitine palmitoyltransferase II gene (CPT1) to chromosome 1p32.". Genomics 24 (1): 195–7. 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): 171–4. 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): 314–20. 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. 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. 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): 149–56. 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): 377–86. 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): 229–36. 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): 210–20. doi:10.1002/(SICI)1098-1004(1999)13:3<210::AID-HUMU5>3.0.CO;2-0. PMID 10090476. 
 This article on a gene on chromosome 1 is a stub. You can help Wikipedia by expanding it.
v • d • e
Transferases: acyltransferases (EC 2.3)
2.3.1: other than amino-acyl groups
(mostly acetyltransferases)
2.3.2 - Aminoacyltransferases
2.3.3 - converted into alkyl on transfer
v • d • e
Metabolism: lipid metabolism - triglyceride and fatty acid enzymes
Lipid production
Lipid degradation
see also disorders
v • d • e
Mitochondrial enzymes and transporters
Outer membrane
Intermembrane space
Inner membrane
Matrix
Other/to be sorted
Mitochondrial DNA
Complex I (7 units) - Complex III (1 unit) - Complex IV (3 units) - ATP synthase (2 units)


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