CPT1A wt Allele

**Semantic type:** Gene or Genome

**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.

**Synonyms:** - CPT I, Liver Gene - CPT1 - CPT1-L - Carnitine Palmitoyltransferase 1A (Liver) Gene - Carnitine Palmitoyltransferase 1A wt Allele - Carnitine Palmitoyltransferase I, Liver Gene - L-CPT1