Gene Symbol: Cpt2
Description: carnitine palmitoyltransferase 2
Alias: CPTII, carnitine O-palmitoyltransferase 2, mitochondrial, CPT II, carnitine palmitoyltransferase II
- de Vries Y, Arvidson D, Waterham H, Cregg J, Woldegiorgis G. Functional characterization of mitochondrial carnitine palmitoyltransferases I and II expressed in the yeast Pichia pastoris. Biochemistry. 1997;36:5285-92 pubmed..the inner mitochondrial membrane by the carnitine/acylcarnitine translocase and converted back to acyl-CoA by CPTII. Although CPTII has been examined in detail, studies on CPTI have been hampered by an inability to purify CPTI in ..
- Vladutiu G, Bennett M, Smail D, Wong L, Taggart R, Lindsley H. A variable myopathy associated with heterozygosity for the R503C mutation in the carnitine palmitoyltransferase II gene. Mol Genet Metab. 2000;70:134-41 pubmedAdult-onset carnitine palmitoyltransferase II (CPT II) deficiency is an autosomal recessive disease characterized by muscle pain and stiffness with rhabdomyolysis and myoglobinuria in severe cases...
- Rufer A, Thoma R, Benz J, Stihle M, Gsell B, De Roo E, et al. The crystal structure of carnitine palmitoyltransferase 2 and implications for diabetes treatment. Structure. 2006;14:713-23 pubmed..Mapping of mutations described for CPT-2 deficiency, a hereditary disorder of lipid metabolism, implies effects on substrate recognition and structural integrity of CPT-2. ..
- Gu J, Yao M, Yang J, Cai Y, Zheng W, Wang L, et al. Mitochondrial carnitine palmitoyl transferase-II inactivity aggravates lipid accumulation in rat hepatocarcinogenesis. World J Gastroenterol. 2017;23:256-264 pubmed publisher..05). Low CPT-II expression might lead to abnormal hepatic lipid accumulation, which should promote the malignant transformation of hepatocytes. ..