Karnitin palmitoiltransferaza II

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Karnitin palmitoiltransferaza 2
Identifikatori
Simboli CPT2; CPT1; CPTASE; IIAE4
Vanjski ID OMIM600650 MGI109176 HomoloGene77 GeneCards: CPT2 Gene
EC broj 2.3.1.21
Pregled RNK izražavanja
PBB GE CPT2 204264 at tn.png
PBB GE CPT2 204263 s at tn.png
podaci
Ortolozi
Vrsta Čovek Miš
Entrez 1376 12896
Ensembl ENSG00000157184 ENSMUSG00000028607
UniProt P23786 P52825
RefSeq (mRNA) NM_000098 NM_009949
RefSeq (protein) NP_000089 NP_034079
Lokacija (UCSC) Chr 1:
53.66 - 53.68 Mb
Chr 4:
107.9 - 107.92 Mb
PubMed pretraga [1] [2]

Karnitin O-palmitoiltransferaza 2, mitohondrijska je enzim koji je kod čoveka kodiran CPT2 genom.[1][2]

Prekurzor karnitin palmitoiltransferaze II (CPT2) je nuklearni protein koji se transportuje do mitohondrijske unutrašnje membrane inner membrane. CPT2 zajedno sa karnitin palmitoiltransferazom I oksidizuje dugoloančane masne kiseline u mitohondrijama. Defekti ovog gena uzrokuje poremećaje u mitohondrijskoj oksidaciji dugolančanih masnih kiselina (LCFA) i deficijenciju karnitin palmitoiltrasferaze II.[2]

Acil-KoA iz citozola do mitohodrijkog matriksa

Reference[uredi - уреди]

  1. 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): 1372–1374. DOI:10.1016/0888-7543(92)90076-5. PMID 1339389. 
  2. 2.0 2.1 "Entrez Gene: CPT2 carnitine palmitoyltransferase II". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1376. 

Literatura[uredi - уреди]

  • Bonnefont JP (2000). "Carnitine palmitoyltransferase deficiencies". Mol. Genet. Metab. 68 (4): 424–440. DOI:10.1006/mgme.1999.2938. PMID 10607472. 
  • van der Leij FR (2000). "Genomics of the human carnitine acyltransferase genes". Mol. Genet. Metab. 71 (1–2): 139–153. 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 (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 (1992). "cDNA cloning, sequence analysis, and chromosomal localization of human carnitine palmitoyltransferase". Proc. Natl. Acad. Sci. U.S.A. 88 (23): 10981–10981. DOI:10.1073/pnas.88.23.10981. PMID 1961767. 
  • Finocchiaro G (1991). "cDNA cloning, sequence analysis, and chromosomal localization of the gene for human carnitine palmitoyltransferase". Proc. Natl. Acad. Sci. U.S.A. 88 (2): 661–665. 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): 163–166. DOI:10.1016/0014-5793(90)81354-Q. PMID 2174799. 
  • Verderio E (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 (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 (1995). "Assignment of the human carnitine palmitoyltransferase II gene (CPT1) to chromosome 1p32". Genomics 24 (1): 195–197. DOI:10.1006/geno.1994.1605. PMID 7896283. 
  • Montermini L (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): 171–174. DOI:10.1016/0378-1119(94)90802-8. PMID 8125298. 
  • Taroni F (1993). "Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients". Nat. Genet. 4 (3): 314–320. DOI:10.1038/ng0793-314. PMID 8358442. 
  • Verderio E (1993). "Two novel sequence polymorphisms of the human carnitine palmitoyltransferase II (CPT1) gene". Hum. Mol. Genet. 2 (3): 334–334. DOI:10.1093/hmg/2.3.334. PMID 8499929. 
  • Bonnefont JP (1996). "Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression". Am. J. Hum. Genet. 58 (5): 971–8. PMID 8651281. 
  • Suzuki Y (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1–2): 149–156. DOI:10.1016/S0378-1119(97)00411-3. PMID 9373149. 
  • Wataya K (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): 377–386. DOI:<377::AID-HUMU5>3.0.CO;2-E 10.1002/(SICI)1098-1004(1998)11:5<377::AID-HUMU5>3.0.CO;2-E. PMID 9600456. 
  • Yang BZ (1998). "Identification of four novel mutations in patients with carnitine palmitoyltransferase II (CPT II) deficiency". Mol. Genet. Metab. 64 (4): 229–236. 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): 210–220. DOI:<210::AID-HUMU5>3.0.CO;2-0 10.1002/(SICI)1098-1004(1999)13:3<210::AID-HUMU5>3.0.CO;2-0. PMID 10090476. 

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