Carnitine palmitoyltransferase II: Information from Answers.com

Carnitine palmitoyltransferase II

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

Species

Human

Mouse

RefSeq

NM_000098 (mRNA)

NM_009949 (mRNA)

NP_000089 (protein)

NP_034079 (protein)

Location

Chr 1:
53.43 - 53.63 Mb

Chr 4:
107.4 - 107.42 Mb

PubMed search

[1]

[2]

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.gif

References

^ 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): 1372-4. PMID 1339389.
^ ^a ^b "Entrez Gene: CPT2 carnitine palmitoyltransferase II". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1376.

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): 1543–1554. doi:10.1097/01.LAB.0000098428.51765.83. PMID 14615409.
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. doi:10.1073/pnas.89.18.8429. 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. doi:10.1073/pnas.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. doi:10.1073/pnas.88.2.661. 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. doi:10.1016/0014-5793(90)81354-Q. 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. doi:10.1093/hmg/4.1.19. 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): 1984–1988. doi:10.1073/pnas.92.6.1984. 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. doi:10.1016/0378-1119(94)90802-8. 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. doi:10.1093/hmg/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. doi:10.1016/S0378-1119(97)00411-3. 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.

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

Metabolism: lipid metabolism · triglyceride and fatty acid enzymes

Synthesis

Malonyl-CoA synthesis	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

Fatty acid desaturases	Stearoyl-CoA_desaturase-1

Triacyl glycerol	Glycerol-3-phosphate dehydrogenase · Thiokinase

Degradation

Acyl transport

Carnitine palmitoyltransferase I · Carnitine-acylcarnitine translocase · Carnitine palmitoyltransferase II

Beta oxidation

General	Acyl CoA dehydrogenase (ACADL, ACADM, ACADS, ACADVL, ACADSB) · Enoyl-CoA hydratase MTP: HADH · HADHA · HADHB Acetyl-CoA C-acyltransferase

Unsaturated	Enoyl CoA isomerase · 2,4 Dienoyl-CoA reductase

Odd chain	Propionyl-CoA carboxylase

Other	Hydroxyacyl-Coenzyme A dehydrogenase

To acetyl-CoA

Malonyl-CoA decarboxylase

Aldehydes

Long-chain-aldehyde dehydrogenase

see also intermediates, 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, Uncoupling protein)

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	steroidogenesis (Cholesterol side-chain cleavage enzyme, Steroid 11-beta-hydroxylase, Aldosterone synthase)

Mitochondrial DNA	Complex I (MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6) - Complex III (MT-CYB) - Complex IV (MT-CO1, MT-CO2, MT-CO3) ATP synthase (MT-ATP6, MT-ATP8) tRNA (MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY)

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Carnitine palmitoyltransferase II

References

Further reading