Karnitin palmitoiltransferaza II
Prijeđi na navigaciju
Prijeđi na pretragu
| edit |
| 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 | ||||||||||
| |||||||||||
| 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]
Reference[uredi | uredi kod]
- ↑ 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.
- ↑ 2,0 2,1 „Entrez Gene: CPT2 carnitine palmitoyltransferase II”.
Literatura[uredi | uredi kod]
- Bonnefont JP, Demaugre F, Prip-Buus C i dr.. (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, Verderio E, Fiorucci S i dr.. (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. PMC 49933. PMID 1528846.
- Finocchiaro G, Taroni F, Rocchi M i dr.. (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. PMC 53056. PMID 1961767.
- Finocchiaro G, Taroni F, Rocchi M i dr.. (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. PMC 50872. 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, Cavadini P, Montermini L i dr.. (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 i dr.. (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. PMC 42407. PMID 7892212.
- Gellera C, Verderio E, Floridia G i dr.. (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, Wang H, Verderio E i dr.. (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, Verderio E, Dworzak F i dr.. (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, Cavadini P, Pandolfo M i dr.. (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, Taroni F, Cavadini P i dr.. (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 i dr.. (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, Akanuma J, Cavadini P i dr.. (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:10.1002/(SICI)1098-1004(1998)11:5<377::AID-HUMU5>3.0.CO;2-E. PMID 9600456.
- Yang BZ, Ding JH, Dewese T i dr.. (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:10.1002/(SICI)1098-1004(1999)13:3<210::AID-HUMU5>3.0.CO;2-0. PMID 10090476.
Vidi još[uredi | uredi kod]