≡

Carnitine Palmitoyltransferase 2, Mitochondrial (CPT2)

[Edit]

CPTASE; Carnitine O-Palmitoyltransferase 2; Carnitine palmitoyltransferase II

Carnitine Palmitoyltransferase 2, Mitochondrial (CPT2)
CCC C417
HGNC 2330
MGI 109176
PubMed 12673791
RGD 2398
UniProt P23786
Wiki CPT2

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.

The carnitine palmitoyltransferase (CPT) enzyme system, in conjunction with acyl-CoA synthetase and carnitine/acylcarnitine translocase, provides the mechanism whereby long-chain fatty acids are transferred from the cytosol to the mitochondrial matrix to undergo beta-oxidation.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPC417Hu01 Recombinant Carnitine Palmitoyltransferase 2, Mitochondrial (CPT2) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAC417Hu01 Polyclonal Antibody to Carnitine Palmitoyltransferase 2, Mitochondrial (CPT2) WB; IHC; ICC; IP.
MAC417Hu22 Monoclonal Antibody to Carnitine Palmitoyltransferase 2, Mitochondrial (CPT2) WB; IHC; ICC; IP.
Assay Kits SEC417Hu ELISA Kit for Carnitine Palmitoyltransferase 2, Mitochondrial (CPT2) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Carnitine Palmitoyltransferase 2, Mitochondrial (CPT2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Carnitine Palmitoyltransferase 2, Mitochondrial (CPT2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Carnitine Palmitoyltransferase 2, Mitochondrial (CPT2) Polyclonal Antibody Customized Service Offer
Assay Kits SEC417Mu ELISA Kit for Carnitine Palmitoyltransferase 2, Mitochondrial (CPT2) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPC417Ra01 Recombinant Carnitine Palmitoyltransferase 2, Mitochondrial (CPT2) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAC417Ra01 Polyclonal Antibody to Carnitine Palmitoyltransferase 2, Mitochondrial (CPT2) WB; IHC; ICC; IP.
MAC417Ra21 Monoclonal Antibody to Carnitine Palmitoyltransferase 2, Mitochondrial (CPT2) WB; IHC; ICC; IP.
Assay Kits SEC417Ra ELISA Kit for Carnitine Palmitoyltransferase 2, Mitochondrial (CPT2) Enzyme-linked immunosorbent assay for Antigen Detection.
  1. "cDNA cloning, sequence analysis, and chromosomal localization of the gene for human carnitine palmitoyltransferase."Proc. Natl. Acad. Sci. U.S.A. 88:661-665(1991) [PubMed] [Europe PMC] [Abstract]
  2. ErratumProc. Natl. Acad. Sci. U.S.A. 88:10981-10981(1991) [PubMed] [Europe PMC] [Abstract]
  3. "Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations."Hum. Mol. Genet. 4:19-29(1995) [PubMed] [Europe PMC] [Abstract]
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  5. "The DNA sequence and biological annotation of human chromosome 1." Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  7. "Purification, characterization and partial amino acid sequences of carnitine palmitoyl-transferase from human liver."FEBS Lett. 274:163-166(1990) [PubMed] [Europe PMC] [Abstract]
  8. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
  9. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  10. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
  11. "Lethal carnitine palmitoyltransferase (CPT) II deficiency in newborns: a molecular-genetic study."Am. J. Hum. Genet. 51:A245-A245(1992)
  12. "Molecular characterization of inherited carnitine palmitoyltransferase II deficiency."Proc. Natl. Acad. Sci. U.S.A. 89:8429-8433(1992) [PubMed] [Europe PMC] [Abstract]
  13. "Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients."Nat. Genet. 4:314-320(1993) [PubMed] [Europe PMC] [Abstract]
  14. "Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression."Am. J. Hum. Genet. 58:971-978(1996) [PubMed] [Europe PMC] [Abstract]
  15. "Carnitine palmityltransferase II deficiency: three novel mutations."Ann. Neurol. 42:414-415(1997)
  16. "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. 11:377-386(1998) [PubMed] [Europe PMC] [Abstract]
  17. "Identification of four novel mutations in patients with carnitine palmitoyltransferase II (CPT II) deficiency."Mol. Genet. Metab. 64:229-236(1998) [PubMed] [Europe PMC] [Abstract]
  18. "Novel mutations associated with carnitine palmitoyltransferase II deficiency."Hum. Mutat. 13:210-220(1999) [PubMed] [Europe PMC] [Abstract]
  19. "Antenatal presentation of carnitine palmitoyltransferase II deficiency."Am. J. Med. Genet. 102:183-187(2001) [PubMed] [Europe PMC] [Abstract]
  20. "Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency."J. Inherit. Metab. Dis. 26:543-557(2003) [PubMed] [Europe PMC] [Abstract]
  21. "Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review."Lab. Invest. 83:1543-1554(2003) [PubMed] [Europe PMC] [Abstract]
  22. "Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations."Ann. Neurol. 57:60-66(2005) [PubMed] [Europe PMC] [Abstract]
  23. "Thermolabile phenotype of carnitine palmitoyltransferase II variations as a predisposing factor for influenza-associated encephalopathy."FEBS Lett. 579:2040-2044(2005) [PubMed] [Europe PMC] [Abstract]
  24. "Detection and validation of non-synonymous coding SNPs from orthogonal analysis of shotgun proteomics data."J. Proteome Res. 6:2331-2340(2007) [PubMed] [Europe PMC] [Abstract]
  25. "Thermal instability of compound variants of carnitine palmitoyltransferase II and impaired mitochondrial fuel utilization in influenza-associated encephalopathy."Hum. Mutat. 29:718-727(2008) [PubMed] [Europe PMC] [Abstract]
  26. "Fatal viral infection-associated encephalopathy in two Chinese boys: a genetically determined risk factor of thermolabile carnitine palmitoyltransferase II variants."J. Hum. Genet. 56:617-621(2011) [PubMed] [Europe PMC] [Abstract]