CPT2

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.^[2]

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.^[4] Mužjaci i ženke su podvrgnute standardizovanom fenotipskom pregledu^[5] za utvrđivanje efekata delecija.^[6]^[7]^[8]^[9]^[10]

Fenotip *Cpt2* nokaut-miševa
Svojstvo	Fenotip
Svi podaci raspoloživi na linku.^[5]^[10]
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

Reference

^ 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.Šablon:Retracted
^ ^a ^b "Entrez Gene: CPT2 carnitine palmitoyltransferase II".
^ "UniProt, P23786" (jezik: англ.). Pristupljeno 25 серпня 2017. Provjerite vrijednost datuma u parametru: |access-date= (pomoć)CS1 održavanje: nepoznati jezik (link)
^ Gerdin AK (2010). "The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x. S2CID 85911512.
^ ^a ^b "International Mouse Phenotyping Consortium".
^ Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (Jun 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
^ Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
^ Collins FS, Rossant J, Wurst W (Jan 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. S2CID 18872015.
^ White JK, Gerdin AK, Karp NA, Ryder E, Buljan M, Bussell JN, Salisbury J, Clare S, Ingham NJ, Podrini C, Houghton R, Estabel J, Bottomley JR, Melvin DG, Sunter D, Adams NC, Sanger Institute Mouse Genetics Project, Tannahill D, Logan DW, Macarthur DG, Flint J, Mahajan VB, Tsang SH, Smyth I, Watt FM, Skarnes WC, Dougan G, Adams DJ, Ramirez-Solis R, Bradley A, Steel KP (2013). "Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes". Cell. 154 (2): 452–64. doi:10.1016/j.cell.2013.06.022. PMC 3717207. PMID 23870131.
^ ^a ^b "Infection and Immunity Immunophenotyping (3i) Consortium". Arhivirano s originala, 2. 9. 2016.

Dopunska literatura

Bonnefont JP, Demaugre F, Prip-Buus C, Saudubray JM, Brivet M, Abadi N, Thuillier L (2000). "Carnitine palmitoyltransferase deficiencies". Mol. Genet. Metab. 68 (4): 424–440. doi:10.1006/mgme.1999.2938. PMID 10607472.
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.
Finocchiaro G, Taroni F, Rocchi M, Liras Martin A, Colombo I, Tarelli GT, DiDonato S (1992). "cDNA cloning, sequence analysis, and chromosomal localization of human carnitine palmitoyltransferase". Proc. Natl. Acad. Sci. U.S.A. 88 (23): 10981. doi:10.1073/pnas.88.23.10981. PMC 53056. PMID 1961767.
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.
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. S2CID 23190622.
Verderio E, Cavadini P, Montermini L, Wang H, Lamantea E, Finocchiaro G, DiDonato S, Gellera C, Taroni F (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, Esser V, Foster DW, McGarry JD (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. Bibcode:1995PNAS...92.1984B. doi:10.1073/pnas.92.6.1984. PMC 42407. PMID 7892212.
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.
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, 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.
Yang BZ, Ding JH, Dewese T, Roe D, He G, Wilkinson J, Day DW, Demaugre F, Rabier D, Brivet M, Roe C (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.

Vanjski linkovi

[pmid1339389-1] 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.Šablon:Retracted

[entrez-2] "Entrez Gene: CPT2 carnitine palmitoyltransferase II".

[UniProt-3] "UniProt, P23786" (jezik: англ.). Pristupljeno 25 серпня 2017. Provjerite vrijednost datuma u parametru: |access-date= (pomoć)CS1 održavanje: nepoznati jezik (link)

[mgp_reference-4] Gerdin AK (2010). "The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x. S2CID 85911512.

[IMPCsearch_ref-5] "International Mouse Phenotyping Consortium".

[pmid21677750-6] Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (Jun 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.

[mouse_library-7] Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.

[mouse_for_all_reasons-8] Collins FS, Rossant J, Wurst W (Jan 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. S2CID 18872015.

[pmid23870131-9] White JK, Gerdin AK, Karp NA, Ryder E, Buljan M, Bussell JN, Salisbury J, Clare S, Ingham NJ, Podrini C, Houghton R, Estabel J, Bottomley JR, Melvin DG, Sunter D, Adams NC, Sanger Institute Mouse Genetics Project, Tannahill D, Logan DW, Macarthur DG, Flint J, Mahajan VB, Tsang SH, Smyth I, Watt FM, Skarnes WC, Dougan G, Adams DJ, Ramirez-Solis R, Bradley A, Steel KP (2013). "Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes". Cell. 154 (2): 452–64. doi:10.1016/j.cell.2013.06.022. PMC 3717207. PMID 23870131.

[iii_ref-10] "Infection and Immunity Immunophenotyping (3i) Consortium". Arhivirano s originala, 2. 9. 2016.

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