CPT2 wt Allele

**Semantic type:** Gene or Genome

**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.

**Synonyms:** - CPT1 - CPTASE - Carnitine Palmitoyltransferase 2 wt Allele - Carnitine Palmitoyltransferase II Gene - IIAE4