Carnitine palmitoyltransferase II

From Wikipedia, the free encyclopedia

Identifiers

CPT2; CPT1; CPTASE

External IDs

Gene ontology
Molecular Function:	• carnitine O-palmitoyltransferase activity • acyltransferase activity • transferase activity
Cellular Component:	• mitochondrion • mitochondrial inner membrane • membrane
Biological Process:	• lipid metabolic process • fatty acid metabolic process • fatty acid beta-oxidation • transport

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

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

[edit] References

^ ^a ^b Entrez Gene: CPT2 carnitine palmitoyltransferase II.

[edit] 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)	N-Acetylglutamate synthase - Choline acetyltransferase - Acetyl-Coenzyme A acetyltransferase - Dihydrolipoyl transacetylase - Acetyl-CoA C-acyltransferase - Beta-galactoside transacetylase - Carnitine O-palmitoyltransferase (CPT1, CPT2) - Acyltransferase like 2 - Chloramphenicol acetyltransferase - Aminolevulinic acid synthase - Beta-ketoacyl-ACP synthase - Glyceronephosphate O-acyltransferase - Lecithin-cholesterol acyltransferase - Histone acetyltransferase (P300/CBP) - Serotonin N-acetyl transferase - Serine C-palmitoyltransferase (SPTLC1, SPTLC2) - HGSNAT

2.3.2 - Aminoacyltransferases	Gamma-glutamyl transpeptidase - Peptidyl transferase - Transglutaminase (Tissue transglutaminase, Keratinocyte transglutaminase, Factor XIII)

2.3.3 - converted into alkyl on transfer	Citrate synthase - ATP citrate lyase - HMG-CoA synthase

v • d • e Metabolism: lipid metabolism - triglyceride and fatty acid enzymes

Lipid production	ATP citrate lyase - Acetyl-CoA carboxylase Fatty acid synthesis/Fatty acid synthase: Beta-ketoacyl-ACP synthase - Β-Ketoacyl ACP reductase - 3-Hydroxyacyl ACP dehydrase - Enoyl ACP reductase triacyl glycerol: Glycerol-3-phosphate dehydrogenase - Thiokinase

Lipid degradation	Acyl transport: Carnitine palmitoyltransferase I - Carnitine-acylcarnitine translocase - Carnitine palmitoyltransferase II Beta oxidation/Mitochondrial trifunctional protein: Acyl CoA dehydrogenase (ACADL, ACADM, ACADS, ACADVL) - Enoyl-CoA hydratase - 3-Hydroxyacyl CoA dehydrogenase - Acetyl-CoA C-acyltransferase to acetyl-CoA: Malonyl-CoA decarboxylase unsaturated (Enoyl CoA isomerase, 2,4 Dienoyl-CoA reductase) odd chain (Propionyl-CoA carboxylase) aldehydes (Long-chain-aldehyde dehydrogenase)

see also disorders

v • d • e Mitochondrial enzymes and transporters

Outer membrane	fatty acid degradation (Carnitine palmitoyltransferase I, Long fatty acyl CoA synthetase) tryptophan metabolism (Kynureninase) monoamine neurotransmitter metabolism (Monoamine oxidase)

Intermembrane space	Adenylate kinase - Creatine kinase

Inner membrane	oxidative phosphorylation (Coenzyme Q - cytochrome c reductase, Cytochrome c, NADH dehydrogenase, Succinate dehydrogenase) pyrimidine metabolism (Dihydroorotate dehydrogenase) mitochondrial shuttle (Malate-aspartate shuttle, Glycerol phosphate shuttle) other (Glutamate aspartate transporter, Glycerol-3-phosphate dehydrogenase, ATP synthase, Carnitine palmitoyltransferase II)

Matrix	citric acid cycle (Citrate synthase, Aconitase, Isocitrate dehydrogenase, Oxoglutarate dehydrogenase, Succinyl coenzyme A synthetase, Fumarase, Malate dehydrogenase) anaplerotic reactions (Aspartate transaminase, Glutamate dehydrogenase, Pyruvate dehydrogenase complex) urea cycle (Carbamoyl phosphate synthetase I, Ornithine transcarbamylase, N-Acetylglutamate synthase) alcohol metabolism (ALDH2)

Other/to be sorted	Cholesterol side-chain cleavage enzyme

Mitochondrial DNA	Complex I (7 units) - Complex III (1 unit) - Complex IV (3 units) - ATP synthase (2 units)