" /> CPT2 wt Allele - CISMeF





Preferred Label : CPT2 wt Allele;

NCIt synonyms : CPTASE; IIAE4; Carnitine Palmitoyltransferase 2 wt Allele; Carnitine Palmitoyltransferase II Gene; CPT1;

NCIt definition : Human CPT2 wild-type allele is located in the vicinity of 1p32.3 and is approximately 17 kb in length. This allele, which encodes carnitine O-palmitoyltransferase 2, mitochondrial protein, plays a role in the metabolism of long-chain fatty acids. Mutation of the gene is associated with susceptibility to infection-induced acute encephalopathy 4 and with the lethal neonatal, the severe infantile hepatocardiomuscular and the myopathic forms of carnitine palmitoyltransferase 2 deficiency.;

NCI Metathesaurus CUI : CL1907099;

GenBank Accession Number : BC002445;

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28/04/2024


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