Carnitine palmitoyltransferase II explained

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

Function

Carnitine palmitoyltransferase II precursor (CPT2) is a mitochondrial membrane 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.

See also

• Carnitine palmitoyltransferase I

Further reading

• Bonnefont JP, Demaugre F, Prip-Buus C, Saudubray JM, Brivet M, Abadi N, Thuillier L . Carnitine palmitoyltransferase deficiencies . Mol. Genet. Metab. . 68 . 4 . 424–440 . 2000 . 10607472 . 10.1006/mgme.1999.2938 .
• van der Leij FR, Huijkman NC, Boomsma C, Kuipers JR, Bartelds B . Genomics of the human carnitine acyltransferase genes . Mol. Genet. Metab. . 71 . 1–2 . 139–153 . 2000 . 11001805 . 10.1006/mgme.2000.3055 .
• Sigauke E, Rakheja D, Kitson K, Bennett MJ . Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review . Lab. Invest. . 83 . 11 . 1543–1554 . 2003 . 14615409 . 10.1097/01.LAB.0000098428.51765.83 . free .
• Taroni F, Verderio E, Fiorucci S, Cavadini P, Finocchiaro G, Uziel G, Lamantea E, Gellera C, DiDonato S . Molecular characterization of inherited carnitine palmitoyltransferase II deficiency . Proc. Natl. Acad. Sci. U.S.A. . 89 . 18 . 8429–8433 . 1992 . 1528846 . 49933 . 10.1073/pnas.89.18.8429 . 1992PNAS...89.8429T . free .
• Finocchiaro G, Taroni F, Rocchi M, Liras Martin A, Colombo I, Tarelli GT, DiDonato S . cDNA cloning, sequence analysis, and chromosomal localization of human carnitine palmitoyltransferase . Proc. Natl. Acad. Sci. U.S.A. . 88 . 23 . 10981 . 1992 . 1961767 . 53056 . 10.1073/pnas.88.23.10981 . free .
• Finocchiaro G, Taroni F, Rocchi M, Martin AL, Colombo I, Tarelli GT, DiDonato S . 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 . 1991 . 1988962 . 50872 . 10.1073/pnas.88.2.661 . 1991PNAS...88..661F . free .
• Finocchiaro G, Colombo I, DiDonato S . Purification, characterization and partial amino acid sequences of carnitine palmitoyl-transferase from human liver . FEBS Lett. . 274 . 1–2 . 163–166 . 1991 . 2174799 . 10.1016/0014-5793(90)81354-Q . 23190622 . free .
• Verderio E, Cavadini P, Montermini L, Wang H, Lamantea E, Finocchiaro G, DiDonato S, Gellera C, Taroni F . Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations . Hum. Mol. Genet. . 4 . 1 . 19–29 . 1995 . 7711730 . 10.1093/hmg/4.1.19 .
• Britton CH, Schultz RA, Zhang B, Esser V, Foster DW, McGarry JD . 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 . 1995 . 7892212 . 42407 . 10.1073/pnas.92.6.1984 . 1995PNAS...92.1984B . free .
• Gellera C, Verderio E, Floridia G, Finocchiaro G, Montermini L, Cavadini P, Zuffardi O, Taroni F . Assignment of the human carnitine palmitoyltransferase II gene (CPT1) to chromosome 1p32 . Genomics . 24 . 1 . 195–197 . 1995 . 7896283 . 10.1006/geno.1994.1605 .
• Montermini L, Wang H, Verderio E, Taroni F, DiDonato S, Finocchiaro G . Identification of 5' regulatory regions of the human carnitine palmitoyltransferase II gene . Biochim. Biophys. Acta . 1219 . 1 . 237–40 . 1994 . 8086471 . 10.1016/0167-4781(94)90280-1 .
• Maruyama K, Sugano S . Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides . Gene . 138 . 1–2 . 171–174 . 1994 . 8125298 . 10.1016/0378-1119(94)90802-8 .
• Taroni F, Verderio E, Dworzak F, Willems PJ, Cavadini P, DiDonato S . Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients . Nat. Genet. . 4 . 3 . 314–320 . 1993 . 8358442 . 10.1038/ng0793-314 . 6726959 .
• Verderio E, Cavadini P, Pandolfo M, DiDonato S, Taroni F . Two novel sequence polymorphisms of the human carnitine palmitoyltransferase II (CPT1) gene . Hum. Mol. Genet. . 2 . 3 . 334 . 1993 . 8499929 . 10.1093/hmg/2.3.334 .
• Bonnefont JP, Taroni F, Cavadini P, Cepanec C, Brivet M, Saudubray JM, Leroux JP, Demaugre F . Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression . Am. J. Hum. Genet. . 58 . 5 . 971–8 . 1996 . 8651281 . 1914604 .
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S . Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library . Gene . 200 . 1–2 . 149–156 . 1997 . 9373149 . 10.1016/S0378-1119(97)00411-3 .
• Wataya K, Akanuma J, Cavadini P, Aoki Y, Kure S, Invernizzi F, Yoshida I, Kira J, Taroni F, Matsubara Y, Narisawa K . 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 . 1998 . 9600456 . 10.1002/(SICI)1098-1004(1998)11:5<377::AID-HUMU5>3.0.CO;2-E . 43700243 .
• Yang BZ, Ding JH, Dewese T, Roe D, He G, Wilkinson J, Day DW, Demaugre F, Rabier D, Brivet M, Roe C . Identification of four novel mutations in patients with carnitine palmitoyltransferase II (CPT II) deficiency . Mol. Genet. Metab. . 64 . 4 . 229–236 . 1998 . 9758712 . 10.1006/mgme.1998.2711 .
• Taggart RT, Smail D, Apolito C, Vladutiu GD . Novel mutations associated with carnitine palmitoyltransferase II deficiency . Hum. Mutat. . 13 . 3 . 210–220 . 1999 . 10090476 . 10.1002/(SICI)1098-1004(1999)13:3<210::AID-HUMU5>3.0.CO;2-0 . 6801003 . free .

Notes and References

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