Molecular Genetics
CPT II deficiency has an autosomal recessive pattern of inheritance. CPT2 is the gene that encodes the CPT II enzyme, and it has been mapped to chromosomal locus 1p32. This gene is composed of 5 exons that encode a protein 658 amino acids in length. To date, sixty disease-causing mutations within the coding sequence of CPT2 have been reported in the literature, of which 41 are thought to result in amino acid substitutions or deletions at critical residues. It is interesting to note that 86% of these mutations modify amino acid residues that are fully conserved across multiple species including human, rat, mouse, dog, chicken, and zebrafish, which may be indicative of functional significance.
Read more about this topic: Carnitine Palmitoyltransferase II Deficiency