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- NCIT_C186488 IAO_0000115 "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." @default.
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- NCIT_C186488 NCIT_P100 "600528" @default.
- NCIT_C186488 NCIT_P102 "L39211" @default.
- NCIT_C186488 NCIT_P106 "Gene or Genome" @default.
- NCIT_C186488 NCIT_P107 "CPT1A wt Allele" @default.
- NCIT_C186488 NCIT_P108 "CPT1A wt Allele" @default.
- NCIT_C186488 NCIT_P208 "CL1778873" @default.
- NCIT_C186488 NCIT_P321 "1374" @default.
- NCIT_C186488 NCIT_P322 "CTRP" @default.
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- NCIT_C186488 normalizedInformationContent "100" @default.
- NCIT_C186488 referenceCount "1" @default.
- NCIT_C186488 hasExactSynonym "CPT I, Liver Gene" @default.
- NCIT_C186488 hasExactSynonym "CPT1" @default.
- NCIT_C186488 hasExactSynonym "CPT1-L" @default.
- NCIT_C186488 hasExactSynonym "CPT1A wt Allele" @default.
- NCIT_C186488 hasExactSynonym "Carnitine Palmitoyltransferase 1A (Liver) Gene" @default.
- NCIT_C186488 hasExactSynonym "Carnitine Palmitoyltransferase 1A wt Allele" @default.
- NCIT_C186488 hasExactSynonym "Carnitine Palmitoyltransferase I, Liver Gene" @default.
- NCIT_C186488 hasExactSynonym "L-CPT1" @default.
- NCIT_C186488 inSubset NCIT_C116977 @default.
- NCIT_C186488 inSubset NCIT_C142799 @default.
- NCIT_C186488 inSubset NCIT_C142800 @default.
- NCIT_C186488 type Class @default.
- NCIT_C186488 isDefinedBy ncit.owl @default.
- NCIT_C186488 label "CPT1A wt Allele" @default.
- NCIT_C186488 subClassOf NCIT_C16612 @default.
- NCIT_C186488 subClassOf NCIT_C186487 @default.
- NCIT_C186488 subClassOf NCIT_C186488 @default.
- NCIT_C186488 subClassOf NCIT_C21281 @default.
- NCIT_C186488 subClassOf NCIT_C25870 @default.
- NCIT_C186488 equivalentClass B3e3e3bb4c1a01b03459f6cae878c289a @default.
- NCIT_C186488 equivalentClass Bd51deae6a859327404b128949d250bb2 @default.