CPT2

CPT2
Identifikatori
Aliasi
Vanjski ID-jevi	GeneCards: [1]
Ortolozi
Vrste	Čovjek	Miš
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n a	n/a
RefSeq (mRNK)	n/a	n/a
RefSeq (bjelančevina)	n/a	n/a
Lokacija (UCSC)	n/a	n/a
PubMed pretraga	n/a	n/a
Wikipodaci
Pogledaj/uredi – čovjek

Mitohondrijska karnitin O-palmitoiltransferaza 2 jest enzim koji je kod ljudi kodiran genom CPT2 sa hromosoma 1.

Amiokiselininska sekvenca

Dužina polipeptidnog lanca je 658 aminokiselina, a molekulska težina 73.777 Da..

• C: Cistein
• D: Asparaginska kiselina
• E: Glutaminska kiselina
• F: Fenilalanin
• G: Glicin
• H: Histidin
• I: Izoleucin
• K: Lizin
• L: Leucin
• M: Metionin
• N: Asparagin
• P: Prolin
• Q: Glutamin
• R: Arginin
• S: Serin
• T: Treonin
• V: Valin
• W: Triptofan
• Y: Tirozin

10		20		30		40		50
MVPRLLLRAW		PRGPAVGPGA		PSRPLSAGSG		PGQYLQRSIV		PTMHYQDSLP
RLPIPKLEDT		IRRYLSAQKP		LLNDGQFRKT		EQFCKSFENG		IGKELHEQLV
ALDKQNKHTS		YISGPWFDMY		LSARDSVVLN		FNPFMAFNPD		PKSEYNDQLT
RATNMTVSAI		RFLKTLRAGL		LEPEVFHLNP		AKSDTITFKR		LIRFVPSSLS
WYGAYLVNAY		PLDMSQYFRL		FNSTRLPKPS		RDELFTDDKA		RHLLVLRKGN
FYIFDVLDQD		GNIVSPSEIQ		AHLKYILSDS		SPAPEFPLAY		LTSENRDIWA
ELRQKLMSSG		NEESLRKVDS		AVFCLCLDDF		PIKDLVHLSH		NMLHGDGTNR
WFDKSFNLII		AKDGSTAVHF		EHSWGDGVAV		LRFFNEVFKD		STQTPAVTPQ
SQPATTDSTV		TVQKLNFELT		DALKTGITAA		KEKFDATMKT		LTIDCVQFQR
GGKEFLKKQK		LSPDAVAQLA		FQMAFLRQYG		QTVATYESCS		TAAFKHGRTE
TIRPASVYTK		RCSEAFVREP		SRHSAGELQQ		MMVECSKYHG		QLTKEAAMGQ
GFDRHLFALR		HLAAAKGIIL		PELYLDPAYG		QINHNVLSTS		TLSSPAVNLG
GFAPVVSDGF		GVGYAVHDNW		IGCNVSSYPG		RNAREFLQCV		EKALEDMFDA
LEGKSIKS

Funkcija

Prekursor karnitin-palmitoiltransferaze II (CPT2) je protein mitohondrijalne membrane koji se transportuje do unutrašnja mitohondrijske membrane. CPT2 zajedno sa karnitin-palmitoiltransferazom I oksidira dugolančane masne kiseline u mitohondrijama. Defekti ovog gena povezani su sa poremećajima oksidacije mitohondrijskih dugolančanih masnih kiselina (LCFA) i nedostatkom karnitin-palmitoiltransferaze II.

Acyl-CoA: od citosola do mitohondrijalnog matriksa

Modelni organizmi

U proučavanju funkcije CPT2 korišteni su modelni organizmi. Uslovna nokaut-mišja linija pod nazivom Cpt2^{tm1b(KOMP)Wtsi} je generirana u Institutu Wellcome Trust Sanger. Mužjaci i ženke su podvrgnute standardizovanom fenotipskom pregledu za utvrđivanje efekata delecija.

Fenotip Cpt2 nokaut-miševa

Svojstvo	Fenotip
Svi podaci raspoloživi na linku.
Leukociti periferne krvi 6 sedmica	Normalan
Hematologija 6 sedmica	Normalan
Insulin	Normalan
Vijabilnost homozigota na P14	Nenormalan
Tjelesna težina	Normalan
Neurološka procjena	Normalan
Jačina stiska	Normalan
Dismorfologija	Normalan
Indirektna kalorimetrija	Normalan
Test tolerancije glukoze	Normalan
Slušni odgovor moždanog stabla	Normalan
DEXA	Normal
Radiografija	Nenormalan
Morfologija oka	Normalan
Klinička hemija	Normalan
Hematologija 16 sedmica	Normalan
Leukociti periferne krvi 16 sedmica	Normalan
Težina srca	Normalan
Salmonella infekcija	Normalan
Funkcija citototoksičnih T-ćelija	Normalan
Imunophenotipizacija slezene	Normalan
Imunophenotipizacija mezenternog limfnog čvora	Normalan
Kompozicija epidermne imunosti	Normalan
Iizazov gripe	Normalan

Također pogledajte

• Karnitin

Dopunska literatura

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• van der Leij FR, Huijkman NC, Boomsma C, Kuipers JR, Bartelds B (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, Cavadini P, Finocchiaro G, Uziel G, Lamantea E, Gellera C, DiDonato S (1992). "Molecular characterization of inherited carnitine palmitoyltransferase II deficiency". Proc. Natl. Acad. Sci. U.S.A. 89 (18): 8429–8433. Bibcode:1992PNAS...89.8429T. doi:10.1073/pnas.89.18.8429. PMC 49933. PMID 1528846.
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• Finocchiaro G, Taroni F, Rocchi M, Martin AL, Colombo I, Tarelli GT, DiDonato S (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. Bibcode:1991PNAS...88..661F. doi:10.1073/pnas.88.2.661. PMC 50872. PMID 1988962.
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• Gellera C, Verderio E, Floridia G, Finocchiaro G, Montermini L, Cavadini P, Zuffardi O, Taroni F (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, Taroni F, DiDonato S, Finocchiaro G (1994). "Identification of 5' regulatory regions of the human carnitine palmitoyltransferase II gene". Biochim. Biophys. Acta. 1219 (1): 237–40. doi:10.1016/0167-4781(94)90280-1. PMID 8086471.
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• Taroni F, Verderio E, Dworzak F, Willems PJ, Cavadini P, DiDonato S (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. S2CID 6726959.
• Verderio E, Cavadini P, Pandolfo M, DiDonato S, Taroni F (1993). "Two novel sequence polymorphisms of the human carnitine palmitoyltransferase II (CPT1) gene". Hum. Mol. Genet. 2 (3): 334. doi:10.1093/hmg/2.3.334. PMID 8499929.
• Bonnefont JP, Taroni F, Cavadini P, Cepanec C, Brivet M, Saudubray JM, Leroux JP, Demaugre F (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, Suyama A, Sugano S (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, Aoki Y, Kure S, Invernizzi F, Yoshida I, Kira J, Taroni F, Matsubara Y, Narisawa 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:10.1002/(SICI)1098-1004(1998)11:5<377::AID-HUMU5>3.0.CO;2-E. PMID 9600456.
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