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To the best of our knowledge, this is the first report of the coexistence of VHL (show VHL Proteins) disease and CPT2 deficiency in the same individual. Based on findings from animal models, the case illustrates that mutations in the VHL (show VHL Proteins) gene might protect against renal damage caused by CPT2 gene mutations.
The clinical presentation of patients with muscle carnitine palmitoyltransferase II deficiency is discussed in this review in line with enzymatic features. The thermolability of the mutant enzyme might explain why symptoms in muscle CPT II deficiency mainly occur during prolonged exercise, infections and exposure to cold. [review]
Variations in AMPD1 (show AMPD1 Proteins), CPT2, and PGYM genes are not associated with the onset, susceptibility, or severity of chronic fatigue syndrome.
CPT2 is active inside the mitochondrial matrix to recover acyl-CoA (show GNPAT Proteins) from a process generally known as the carnitine shuttle. This protein is expressed in a constitutive way in all cells and tissues.
CPT II deficiency induces an energy crisis of the fatty acid metabolic pathway.
The rs2229291 and rs1799821 variants in CPT II gene might be one of the predisposing factors of acute encephalitis.
The F352C CPT2 variant might be a genetic risk factor for sudden unexpected death in infancy
The data indicate that within the muscle form of CPT II deficiency, the various genotypes have only marginal influence on the clinical and biochemical phenotype.
The homozygous genotype (AA) of CPT2 variant V368I had significantly less blood carnitine in acute myocardial infarction patients.
Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency
Cpt2 is obligate enzyme in long-chain fatty acid (FA) oxidation; cardiac hypertrophy is linked to impaired FA oxidation. Data (including data from studies using transgenic/knockout mice) suggest that deficiency of Cpt2 in cardiac muscle leads to cardiac hypertrophy/dysfunction with eventual lethality without cardiac fibrosis; mTORC1 is activated in Cpt2(-/-) heart, but inhibition of mTORC1 does not prevent hypertrophy.
Mice acclimatized to thermoneutrality revealed that Cpt2A-null interscapular brown adipose tissue failed to induce the expression of thermogenic genes such as Ucp1 and Pgc1a.
Consistent with the known requirement for CPT2 in fatty acid oxidation, macrophages lacking CPT2 were unable to achieve b-oxidation of fatty acids yet still seemed to fully polarize toward an M2 state after stimulation with IL-4 (show IL4 Proteins) in vitro and in vivo.
Cpt2 transcripts decrease following fertilization to undetectable levels and are present again later at the morula stage
It was conclude that suppression of CPT (show DHDDS Proteins) activity by positive energy balance appears to be specific for the liver in mid-lactating dairy cows.
The protein encoded by this gene is a nuclear protein which is transported to the mitochondrial inner membrane. Together with carnitine palmitoyltransferase I, the encoded protein oxidizes long-chain fatty acids in the mitochondria. Defects in this gene are associated with mitochondrial long-chain fatty-acid (LCFA) oxidation disorders.
carnitine O-palmitoyltransferase 2, mitochondrial
, carnitine palmitoyltransferase II
, carnitine palmitoyltransferase 2
, carnitine O-palmitoyltransferase
, carnitine O-palmitoyltransferase 2, mitochondrial-like
, CPT II
, mitochondrial carnitine palmitoyltransferase II