Biology:Carnitine palmitoyltransferase II
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Short description: Mammalian protein found in humans
 Generic protein structure example |
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.[2]
See also
- Carnitine palmitoyltransferase I
References
- ↑ "Localization of the human gene for carnitine palmitoyltransferase to 1p13-p11 by nonradioactive in situ hybridization". Genomics 13 (4): 1372–1374. Sep 1992. doi:10.1016/0888-7543(92)90076-5. PMID 1339389. (Retracted)
- ↑ 2.0 2.1 "Entrez Gene: CPT2 carnitine palmitoyltransferase II". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1376.
Further reading
- "Carnitine palmitoyltransferase deficiencies". Mol. Genet. Metab. 68 (4): 424–440. 2000. doi:10.1006/mgme.1999.2938. PMID 10607472.
- "Genomics of the human carnitine acyltransferase genes". Mol. Genet. Metab. 71 (1–2): 139–153. 2000. doi:10.1006/mgme.2000.3055. PMID 11001805.
- "Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review". Lab. Invest. 83 (11): 1543–1554. 2003. doi:10.1097/01.LAB.0000098428.51765.83. PMID 14615409.
- "Molecular characterization of inherited carnitine palmitoyltransferase II deficiency". Proc. Natl. Acad. Sci. U.S.A. 89 (18): 8429–8433. 1992. doi:10.1073/pnas.89.18.8429. PMID 1528846. Bibcode: 1992PNAS...89.8429T.
- "cDNA cloning, sequence analysis, and chromosomal localization of human carnitine palmitoyltransferase". Proc. Natl. Acad. Sci. U.S.A. 88 (23): 10981. 1992. doi:10.1073/pnas.88.23.10981. PMID 1961767.
- "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. doi:10.1073/pnas.88.2.661. PMID 1988962. Bibcode: 1991PNAS...88..661F.
- "Purification, characterization and partial amino acid sequences of carnitine palmitoyl-transferase from human liver". FEBS Lett. 274 (1–2): 163–166. 1991. doi:10.1016/0014-5793(90)81354-Q. PMID 2174799.
- "Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations". Hum. Mol. Genet. 4 (1): 19–29. 1995. doi:10.1093/hmg/4.1.19. PMID 7711730.
- "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. doi:10.1073/pnas.92.6.1984. PMID 7892212. Bibcode: 1995PNAS...92.1984B.
- "Assignment of the human carnitine palmitoyltransferase II gene (CPT1) to chromosome 1p32". Genomics 24 (1): 195–197. 1995. doi:10.1006/geno.1994.1605. PMID 7896283.
- "Identification of 5' regulatory regions of the human carnitine palmitoyltransferase II gene". Biochim. Biophys. Acta 1219 (1): 237–40. 1994. doi:10.1016/0167-4781(94)90280-1. PMID 8086471.
- "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene 138 (1–2): 171–174. 1994. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- "Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients". Nat. Genet. 4 (3): 314–320. 1993. doi:10.1038/ng0793-314. PMID 8358442.
- "Two novel sequence polymorphisms of the human carnitine palmitoyltransferase II (CPT1) gene". Hum. Mol. Genet. 2 (3): 334. 1993. doi:10.1093/hmg/2.3.334. PMID 8499929.
- "Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression". Am. J. Hum. Genet. 58 (5): 971–8. 1996. PMID 8651281.
- "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1–2): 149–156. 1997. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- "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. doi:10.1002/(SICI)1098-1004(1998)11:5<377::AID-HUMU5>3.0.CO;2-E. PMID 9600456.
- "Identification of four novel mutations in patients with carnitine palmitoyltransferase II (CPT II) deficiency". Mol. Genet. Metab. 64 (4): 229–236. 1998. doi:10.1006/mgme.1998.2711. PMID 9758712.
- "Novel mutations associated with carnitine palmitoyltransferase II deficiency". Hum. Mutat. 13 (3): 210–220. 1999. doi:10.1002/(SICI)1098-1004(1999)13:3<210::AID-HUMU5>3.0.CO;2-0. PMID 10090476.
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