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:
53.66 – 53.68 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 et al. (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 et al. (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 et al. (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]