" /> CPT1A wt Allele - CISMeF





Preferred Label : CPT1A wt Allele;

NCIt synonyms : CPT I, Liver Gene; Carnitine Palmitoyltransferase I, Liver Gene; Carnitine Palmitoyltransferase 1A (Liver) Gene; Carnitine Palmitoyltransferase 1A wt Allele; CPT1-L; CPT1; L-CPT1;

NCIt definition : Human CPT1A wild-type allele is located in the vicinity of 11q13.3 and is approximately 90 kb in length. This allele, which encodes carnitine O-palmitoyltransferase 1, liver isoform protein, plays a role in the modification and mitochondrial uptake of long-chain fatty acids and the metabolism of triglycerides by the liver. Loss of function mutations of the gene are associated with carnitine palmitoyltransferase 1A deficiency.;

NCI Metathesaurus CUI : CL1778873;

GenBank Accession Number : L39211;

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28/04/2024


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