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 | ||||||||||
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| Pregled RNK izražavanja | |||||||||||
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| 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]
Reference
[уреди | уреди извор]- ^ 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.
- ^ а б „Entrez Gene: CPT2 carnitine palmitoyltransferase II”.
Literatura
[уреди | уреди извор]- 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.
- 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
. PMID 1528846. doi:10.1073/pnas.89.18.8429. - Finocchiaro G; Taroni, F; M, Rocchi; et al. (1992). „cDNA cloning, sequence analysis, and chromosomal localization of human carnitine palmitoyltransferase”. Proc. Natl. Acad. Sci. U.S.A. 88 (23): 10981—10981. PMC 53056 . PMID 1961767. doi:10.1073/pnas.88.23.10981.
- 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 . PMID 1988962. doi:10.1073/pnas.88.2.661.
- 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. PMID 2174799. doi:10.1016/0014-5793(90)81354-Q.
- Verderio E; Cavadini, P; L, Montermini; 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. doi:10.1093/hmg/4.1.19.
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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.
- Bonnefont JP; Taroni, F; P, Cavadini; et al. (1996). „Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression”. Am. J. Hum. Genet. 58 (5): 971—8. PMC 1914604 . 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—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.
- 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—236. PMID 9758712. doi:10.1006/mgme.1998.2711.
- Taggart RT, Smail D, Apolito C, Vladutiu GD (1999). „Novel mutations associated with carnitine palmitoyltransferase II deficiency”. Hum. Mutat. 13 (3): 210—220. PMID 10090476. doi:10.1002/(SICI)1098-1004(1999)13:3<210::AID-HUMU5>3.0.CO;2-0.
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