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Homo sapiens carnitine palmitoyltransferase 2 (CPT2), nuclear gene encoding mitochondrial protein, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000098 Homo sapiens carnitine palmitoyltransferase 2 (CPT2), nuclear gene encoding mitochondrial protein, mRNA. GenEZ ORF Cloning On-demand $TBD TBD

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RefSeq Version NM_000098.2, 169790951
Length 3110 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens carnitine palmitoyltransferase 2 (CPT2), nuclear gene encoding mitochondrial protein, mRNA.
Product carnitine O-palmitoyltransferase 2, mitochondrial precursor
Comment

Summary: The protein encoded by this gene is a nuclear protein which is transported to the mitochondrial inner membrane. Together with carnitine palmitoyltransferase I, the encoded protein oxidizes long-chain fatty acids in the mitochondria. Defects in this gene are associated with mitochondrial long-chain fatty-acid (LCFA) oxidation disorders. [provided by RefSeq, Jul 2008].

RefSeq NP_000089.1
CDS 516..2492
Misc Feature(1)417..419
Misc Feature(2)657..2462
Misc Feature(3)1869..1907
Exon (1)1..667
Gene:CPT2
Gene Synonym:CPT1; CPTASE; IIAE4
Exon (2)668..748
Gene:CPT2
Gene Synonym:CPT1; CPTASE; IIAE4
Exon (3)749..855
Gene:CPT2
Gene Synonym:CPT1; CPTASE; IIAE4
Exon (4)856..2160
Gene:CPT2
Gene Synonym:CPT1; CPTASE; IIAE4
Exon (5)2161..3094
Gene:CPT2
Gene Synonym:CPT1; CPTASE; IIAE4
Translation MVPRLLLRAWPRGPAVGPGAPSRPLSAGSGPGQYLQRSIVPTMHYQDSLPRLPIPKLEDT IRRYLSAQKPLLNDGQFRKTEQFCKSFENGIGKELHEQLVALDKQNKHTSYISGPWFDMY LSARDSVVLNFNPFMAFNPDPKSEYNDQLTRATNMTVSAIRFLKTLRAGLLEPEVFHLNP AKSDTITFKRLIRFVPSSLSWYGAYLVNAYPLDMSQYFRLFNSTRLPKPSRDELFTDDKA RHLLVLRKGNFYIFDVLDQDGNIVSPSEIQAHLKYILSDSSPAPEFPLAYLTSENRDIWA ELRQKLMSSGNEESLRKVDSAVFCLCLDDFPIKDLVHLSHNMLHGDGTNRWFDKSFNLII AKDGSTAVHFEHSWGDGVAVLRFFNEVFKDSTQTPAVTPQSQPATTDSTVTVQKLNFELT DALKTGITAAKEKFDATMKTLTIDCVQFQRGGKEFLKKQKLSPDAVAQLAFQMAFLRQYG QTVATYESCSTAAFKHGRTETIRPASVYTKRCSEAFVREPSRHSAGELQQMMVECSKYHG QLTKEAAMGQGFDRHLFALRHLAAAKGIILPELYLDPAYGQINHNVLSTSTLSSPAVNLG GFAPVVSDGFGVGYAVHDNWIGCNVSSYPGRNAREFLQCVEKALEDMFDALEGKSIKS
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Position Chain Variation Link
39+dbSNP:
39+c, tdbSNP:7545725
55+c, tdbSNP:17848481
618+a, gdbSNP:2929073
664+a, cdbSNP:28936375
710+dbSNP:
710+c, gdbSNP:142598568
715+c, gdbSNP:201966320
733+a, gdbSNP:146159244
739+a, gdbSNP:140194675
751+dbSNP:
751+a, cdbSNP:150888506
817+c, tdbSNP:75939866
836+a, gdbSNP:147846614
840+a, cdbSNP:71654989
853+c, tdbSNP:74315294
868+dbSNP:
868+a, gdbSNP:148035648
874+a, gdbSNP:121918528
880+c, tdbSNP:192275019
885+c, tdbSNP:201065226
887+a, gdbSNP:200301403
894+a, gdbSNP:199545795
959+a, gdbSNP:144686779
963+a, c, gdbSNP:141505320
966+a, cdbSNP:200080591
983+c, tdbSNP:138938770
1015+a, gdbSNP:144760921
1026+c, tdbSNP:2229292
1035+a, gdbSNP:28936674
1103+c, tdbSNP:140853350
1148+a, cdbSNP:201622710
1153+a, gdbSNP:74315300
1191+c, tdbSNP:147889730
1195+c, tdbSNP:74315298
1213+a, gdbSNP:144805101
1236+a, gdbSNP:200252755
1240+a, gdbSNP:111896041
1279+a, gdbSNP:199673903
1358+c, tdbSNP:190459228
1361+c, tdbSNP:138855128
1365+c, tdbSNP:201163382
1367+c, tdbSNP:138575554
1368+a, gdbSNP:200906458
1385+c, tdbSNP:202145705
1392+a, gdbSNP:145237292
1427+g, tdbSNP:141553491
1447+a, gdbSNP:142790440
1500+g, tdbSNP:147310202
1502+c, gdbSNP:201165795
1540+c, tdbSNP:144658100
1562+c, tdbSNP:148512862
1563+c, tdbSNP:151003641
1570+g, tdbSNP:2229291
1587+c, tdbSNP:199894581
1617+a, gdbSNP:1799821
1653+c, gdbSNP:144875040
1663+a, tdbSNP:74315295
1704+a, gdbSNP:201745292
1717+g, tdbSNP:146670074
1748+c, gdbSNP:112914907
1762+a, gdbSNP:201008705
1799+a, gdbSNP:187044944
1850+c, tdbSNP:143075786
1857+c, tdbSNP:74315297
1875+g, tdbSNP:74315299
1887+a, cdbSNP:147276580
1904..1905+, gdbSNP:35237240
1907+c, tdbSNP:201681645
1912+c, tdbSNP:200399018
1919+a, gdbSNP:140771069
1937+a, cdbSNP:192779168
1943+a, gdbSNP:149557870
1953+a, gdbSNP:201508063
1973+c, tdbSNP:201241649
1979+a, cdbSNP:143486080
1992+a, gdbSNP:61731996
2003+c, tdbSNP:139321501
2022+c, tdbSNP:74315296
2027+g, tdbSNP:150953507
2033+c, tdbSNP:140798841
2034+a, gdbSNP:142600166
2051+c, tdbSNP:199573389
2060+c, tdbSNP:201663642
2093+c, tdbSNP:113493395
2113+c, tdbSNP:144703247
2117+a, gdbSNP:148110518
2149+a, cdbSNP:17848485
2161+dbSNP:
2161+a, gdbSNP:186044004
2172+a, gdbSNP:28936376
2189+g, tdbSNP:141814677
2194+a, gdbSNP:199996641
2278+c, gdbSNP:1871748
2282+a, gdbSNP:77565483
2291+a, gdbSNP:141146189
2321+c, tdbSNP:147953465
2335+c, gdbSNP:201913567
2364+c, tdbSNP:201996784
2398+a, cdbSNP:28936673
2403+g, tdbSNP:112676827
2406+c, tdbSNP:74315293
2412+g, tdbSNP:141903761
2454+a, gdbSNP:1799822
2456+a, gdbSNP:78266699
2458+c, tdbSNP:138125299
2478+c, tdbSNP:138893547
2514+a, tdbSNP:115408040
2547+c, tdbSNP:61561746
2554+a, gdbSNP:672
2567+c, tdbSNP:6702020
2608+c, tdbSNP:182988415
2674+c, tdbSNP:1134725
2740+c, tdbSNP:186214647
2793+a, gdbSNP:191416983
2826+c, tdbSNP:1056446
Gene SymbolCPT2
Gene SynonymCPT1; CPTASE; IIAE4
Chromosome1
Locus Map1p32
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000098 Homo sapiens carnitine palmitoyltransferase 2 (CPT2), nuclear gene encoding mitochondrial protein, mRNA. On-demand TBD TBD
Title Thermolabile CPT II variants and low blood ATP levels are closely related to severity of acute encephalopathy in Japanese children .
Author Kubota,M., Chida,J., Hoshino,H., Ozawa,H., Koide,A., Kashii,H., Koyama,A., Mizuno,Y., Hoshino,A., Yamaguchi,M., Yao,D., Yao,M. and Kido,H.
Journal Brain Dev. 34 (1), 20-27 (2012)
Title Neonatal carnitine palmitoyltransferase II deficiency associated with Dandy-Walker syndrome and sudden death .
Author Yahyaoui,R., Espinosa,M.G., Gomez,C., Dayaldasani,A., Rueda,I., Roldan,A., Ugarte,M., Lastra,G. and Perez,V.
Journal Mol. Genet. Metab. 104 (3), 414-416 (2011)
Title Fatal viral infection-associated encephalopathy in two Chinese boys: a genetically determined risk factor of thermolabile carnitine palmitoyltransferase II variants .
Author Mak,C.M., Lam,C.W., Fong,N.C., Siu,W.K., Lee,H.C., Siu,T.S., Lai,C.K., Law,C.Y., Tong,S.F., Poon,W.T., Lam,D.S., Ng,H.L., Yuen,Y.P., Tam,S., Que,T.L., Kwong,N.S. and Chan,A.Y.
Journal J. Hum. Genet. 56 (8), 617-621 (2011)
Title Carnitine palmitoyl transferase II polymorphism is associated with multiple syndromes of acute encephalopathy with various infectious diseases .
Author Shinohara,M., Saitoh,M., Takanashi,J., Yamanouchi,H., Kubota,M., Goto,T., Kikuchi,M., Shiihara,T., Yamanaka,G. and Mizuguchi,M.
Journal Brain Dev. 33 (6), 512-517 (2011)
Title Genetic analysis of the rhabdomyolysis-associated genes in forensic autopsy cases of methamphetamine abusers .
Author Matsusue,A., Hara,K., Kashiwagi,M., Kageura,M., Sugimura,T. and Kubo,S.
Journal Leg Med (Tokyo) 13 (1), 7-11 (2011)
Title Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations .
Author Verderio,E., Cavadini,P., Montermini,L., Wang,H., Lamantea,E., Finocchiaro,G., DiDonato,S., Gellera,C. and Taroni,F.
Journal Hum. Mol. Genet. 4 (1), 19-29 (1995)
Title Molecular characterization of inherited carnitine palmitoyltransferase II deficiency .
Author Taroni,F., Verderio,E., Fiorucci,S., Cavadini,P., Finocchiaro,G., Uziel,G., Lamantea,E., Gellera,C. and DiDonato,S.
Journal Proc. Natl. Acad. Sci. U.S.A. 89 (18), 8429-8433 (1992)
Title cDNA cloning, sequence analysis, and chromosomal localization of human carnitine palmitoyltransferase .
Author Finocchiaro,G., Taroni,F., Rocchi,M., Liras Martin,A., Colombo,I., Tarelli,G.T. and DiDonato,S.
Journal Proc. Natl. Acad. Sci. U.S.A. 88 (23), 10981 (1991)
Title cDNA cloning, sequence analysis, and chromosomal localization of the gene for human carnitine palmitoyltransferase .
Author Finocchiaro,G., Taroni,F., Rocchi,M., Martin,A.L., Colombo,I., Tarelli,G.T. and DiDonato,S.
Journal Proc. Natl. Acad. Sci. U.S.A. 88 (2), 661-665 (1991)
Title Purification, characterization and partial amino acid sequences of carnitine palmitoyl-transferase from human liver .
Author Finocchiaro,G., Colombo,I. and DiDonato,S.
Journal FEBS Lett. 274 (1-2), 163-166 (1990)


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