Carnitine palmitoyltransferase II

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Carnitine palmitoyltransferase 2
Identifiers
Symbols CPT2 ; CPT1; CPTASE; IIAE4
External IDs OMIM600650 MGI109176 HomoloGene77 ChEMBL: 3238 GeneCards: CPT2 Gene
EC number 2.3.1.21
RNA expression pattern
PBB GE CPT2 204264 at tn.png
PBB GE CPT2 204263 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 1376 12896
Ensembl ENSG00000157184 ENSMUSG00000028607
UniProt P23786 P52825
RefSeq (mRNA) NM_000098 NM_009949
RefSeq (protein) NP_000089 NP_034079
Location (UCSC) Chr 1:
53.2 – 53.21 Mb
Chr 4:
107.9 – 107.92 Mb
PubMed search [1] [2]

Carnitine O-palmitoyltransferase 2, mitochondrial is an enzyme that in humans is encoded by the CPT2 gene.[1][2]

Function[edit]

Carnitine palmitoyltransferase II precursor (CPT2) is a nuclear protein which is transported to the mitochondrial inner membrane. CPT2 together with carnitine palmitoyltransferase I oxidizes long-chain fatty acids in the mitochondria. Defects in this gene are associated with mitochondrial long-chain fatty-acid (LCFA) oxidation disorders and carnitine palmitoyltransferase II deficiency.[2]

Acyl-CoA from cytosol to the mitochondrial matrix

Model organisms[edit]

Model organisms have been used in the study of CPT2 function. A conditional knockout mouse line called Cpt2tm1b(KOMP)Wtsi was generated at the Wellcome Trust Sanger Institute.[3] Male and female animals underwent a standardized phenotypic screen[4] to determine the effects of deletion.[5][6][7][8] Additional screens performed: - In-depth immunological phenotyping[9]

See also[edit]

References[edit]

  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.  (Retracted. If this is intentional, please replace {{Retracted}} with {{Retracted|intentional=yes}}.)
  2. ^ a b "Entrez Gene: CPT2 carnitine palmitoyltransferase II". 
  3. ^ Gerdin AK (2010). "The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice". Acta Opthalmologica 88: 925-7.doi:10.1111/j.1755-3768.2010.4142.x: Wiley. 
  4. ^ a b "International Mouse Phenotyping Consortium". 
  5. ^ 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): 337â€"42. doi:10.1038/nature10163. PMC 3572410. PMID 21677750. 
  6. ^ Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718. 
  7. ^ Collins FS, Rossant J, Wurst W (Jan 2007). "A mouse for all reasons". Cell 128 (1): 9â€"13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. 
  8. ^ 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. PMID 23870131. 
  9. ^ a b "Infection and Immunity Immunophenotyping (3i) Consortium". 

Further reading[edit]