Property Summary

NCBI Gene PubMed Count 74
Grant Count 7
R01 Count 5
Funding $729,678.67
PubMed Score 172.95
PubTator Score 353.35

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Gene RIF (50)

PMID Text
26874509 polymorphism may be associated with severity of EV71 infection
26041663 CPT2 is active inside the mitochondrial matrix to recover acyl-CoA from a process generally known as the carnitine shuttle. This protein is expressed in a constitutive way in all cells and tissues.
25781464 CPT II deficiency induces an energy crisis of the fatty acid metabolic pathway.
25361188 The rs2229291 and rs1799821 variants in CPT II gene might be one of the predisposing factors of acute encephalitis.
25335471 L-carnitine deficiency participates in the pathogenesis of endometrial cancer by means of a mechanism which is unrelated with obesity and increased amount of fat in human body.
24398345 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.
23969168 The F352C CPT2 variant might be a genetic risk factor for sudden unexpected death in infancy
23566841 The homozygous genotype (AA) of CPT2 variant V368I had significantly less blood carnitine in acute myocardial infarction patients.
23475205 The present study shows that screening for second mutations in patients that are heterozygote for the common p.S113L is justified although rare symptomatic heterozygotes.
23322164 CPT2 and CACT are crucial for mitochondrial acylcarnitine formation and export to the extracellular fluids in mitochondrial fatty acid beta-oxidation disorders.
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AA Sequence

MVPRLLLRAWPRGPAVGPGAPSRPLSAGSGPGQYLQRSIVPTMHYQDSLPRLPIPKLEDTIRRYLSAQKP      1 - 70
LLNDGQFRKTEQFCKSFENGIGKELHEQLVALDKQNKHTSYISGPWFDMYLSARDSVVLNFNPFMAFNPD     71 - 140
PKSEYNDQLTRATNMTVSAIRFLKTLRAGLLEPEVFHLNPAKSDTITFKRLIRFVPSSLSWYGAYLVNAY    141 - 210
PLDMSQYFRLFNSTRLPKPSRDELFTDDKARHLLVLRKGNFYIFDVLDQDGNIVSPSEIQAHLKYILSDS    211 - 280
SPAPEFPLAYLTSENRDIWAELRQKLMSSGNEESLRKVDSAVFCLCLDDFPIKDLVHLSHNMLHGDGTNR    281 - 350
WFDKSFNLIIAKDGSTAVHFEHSWGDGVAVLRFFNEVFKDSTQTPAVTPQSQPATTDSTVTVQKLNFELT    351 - 420
DALKTGITAAKEKFDATMKTLTIDCVQFQRGGKEFLKKQKLSPDAVAQLAFQMAFLRQYGQTVATYESCS    421 - 490
TAAFKHGRTETIRPASVYTKRCSEAFVREPSRHSAGELQQMMVECSKYHGQLTKEAAMGQGFDRHLFALR    491 - 560
HLAAAKGIILPELYLDPAYGQINHNVLSTSTLSSPAVNLGGFAPVVSDGFGVGYAVHDNWIGCNVSSYPG    561 - 630
RNAREFLQCVEKALEDMFDALEGKSIKS                                              631 - 658
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Text Mined References (80)

PMID Year Title
26874509 2016 Carnitine palmitoyl transferase 2 polymorphism may be associated with enterovirus 71 severe infection in a Chinese population.
26041663 2015 The Carnitine Palmitoyl Transferase (CPT) System and Possible Relevance for Neuropsychiatric and Neurological Conditions.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25781464 2015 Abbreviated half-lives and impaired fuel utilization in carnitine palmitoyltransferase II variant fibroblasts.
25361188 2014 Association of CPT II gene with risk of acute encephalitis in Chinese children.
25335471 2015 L-Carnitine: a new insight into the pathogenesis of endometrial cancer.
24816252 2014 An atlas of genetic influences on human blood metabolites.
24398345 2014 Carnitine palmitoyltransferase II (CPT II) deficiency: genotype-phenotype analysis of 50 patients.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23969168 2014 Carnitine palmitoyltransferase 2 gene polymorphism is a genetic risk factor for sudden unexpected death in infancy.
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