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- B4aa4638df5fc3e2a0cea51f57de19692 NCIT_P378 "NCI" @default.
- B4aa4638df5fc3e2a0cea51f57de19692 type Axiom @default.
- B4aa4638df5fc3e2a0cea51f57de19692 annotatedProperty IAO_0000115 @default.
- B4aa4638df5fc3e2a0cea51f57de19692 annotatedSource NCIT_C186488 @default.
- B4aa4638df5fc3e2a0cea51f57de19692 annotatedTarget "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.