Karnitin palmitoiltransferaza II

Karnitin palmitoiltransferaza 2
Identifikatori
Simboli CPT2; CPT1; CPTASE; IIAE4
Vanjski ID OMIM: 600650 MGI: 109176 HomoloGene: 77 GeneCards: CPT2 Gene
EC broj 2.3.1.21
Ontologija gena
Molekularna funkcija • aktivnost karnitin O-palmitoiltransferaze
Celularna komponenta • nukleus
• nukleolus
• mitohondrija
• mitohondrijska unutrašnja membrana
Biološki proces • masno kiselinska beta-oksidacija
• premeštanje karnitina
• ćelijski lipidni metabolički proces
Pregled RNK izražavanja
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

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

Literatura

  • Bonnefont JP; Demaugre, F; Prip-Buus C; et al. (2000). „Carnitine palmitoyltransferase deficiencies”. Mol. Genet. Metab. 68 (4): 424—440. PMID 10607472. doi:10.1006/mgme.1999.2938. 
  • van der Leij FR (2000). „Genomics of the human carnitine acyltransferase genes”. Mol. Genet. Metab. 71 (1–2): 139—153. PMID 11001805. doi:10.1006/mgme.2000.3055. CS1 одржавање: аутори-приказ (веза)
  • 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. PMID 14615409. doi:10.1097/01.LAB.0000098428.51765.83. 
  • Taroni F; Verderio, E; S, Fiorucci; et al. (1992). „Molecular characterization of inherited carnitine palmitoyltransferase II deficiency”. Proc. Natl. Acad. Sci. U.S.A. 89 (18): 8429—8433. PMC 49933 Слободан приступ. PMID 1528846. doi:10.1073/pnas.89.18.8429. 
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  • Finocchiaro G; Taroni, F; M, Rocchi; 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—665. PMC 50872 Слободан приступ. PMID 1988962. doi:10.1073/pnas.88.2.661. 
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  • Montermini L; Wang, H; E, Verderio; 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—174. PMID 8125298. doi:10.1016/0378-1119(94)90802-8. 
  • Taroni F; Verderio, E; F, Dworzak; et al. (1993). „Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients”. Nat. Genet. 4 (3): 314—320. PMID 8358442. doi:10.1038/ng0793-314. 
  • Verderio E; Cavadini, P; M, Pandolfo; et al. (1993). „Two novel sequence polymorphisms of the human carnitine palmitoyltransferase II (CPT1) gene”. Hum. Mol. Genet. 2 (3): 334—334. PMID 8499929. doi:10.1093/hmg/2.3.334. 
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  • 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—156. PMID 9373149. doi:10.1016/S0378-1119(97)00411-3. 
  • Wataya K; Akanuma, J; P, Cavadini; 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—386. PMID 9600456. doi:10.1002/(SICI)1098-1004(1998)11:5<377::AID-HUMU5>3.0.CO;2-E. 
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2.3.1: osim amino-acilne grupe2.3.2: Aminoaciltransferaze2.3.3: konverzija u alkil pri transferu
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