Genomics of the human carnitine acyltransferase genes

Mol Genet Metab. Sep-Oct 2000;71(1-2):139-53. doi: 10.1006/mgme.2000.3055.


Five genes in the human genome are known to encode different active forms of related carnitine acyltransferases: CPT1A for liver-type carnitine palmitoyltransferase I, CPT1B for muscle-type carnitine palmitoyltransferase I, CPT2 for carnitine palmitoyltransferase II, CROT for carnitine octanoyltransferase, and CRAT for carnitine acetyltransferase. Only from two of these genes (CPT1B and CPT2) have full genomic structures been described. Data from the human genome sequencing efforts now reveal drafts of the genomic structure of CPT1A and CRAT, the latter not being known from any other mammal. Furthermore, cDNA sequences of human CROT were obtained recently, and database analysis revealed a completed bacterial artificial chromosome sequence that contains the entire CROT gene and several exons of the flanking genes P53TG and PGY3. The genomic location of CROT is at chromosome 7q21.1. There is a putative CPT1-like pseudogene in the carnitine/choline acyltransferase family at chromosome 19. Here we give a brief overview of the functional relations between the different carnitine acyltransferases and some of the common features of their genes. We will highlight the phylogenetics of the human carnitine acyltransferase genes in relation to the fungal genes YAT1 and CAT2, which encode cytosolic and mitochondrial/peroxisomal carnitine acetyltransferases, respectively.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Carnitine Acyltransferases / genetics*
  • Carnitine O-Acetyltransferase / genetics
  • Carnitine O-Palmitoyltransferase / genetics
  • Chromosome Mapping
  • DNA, Complementary / genetics
  • Exons
  • Genome, Human
  • Humans
  • Introns
  • Isoenzymes / genetics
  • Phylogeny
  • Promoter Regions, Genetic
  • Pseudogenes


  • DNA, Complementary
  • Isoenzymes
  • Carnitine Acyltransferases
  • carnitine octanoyltransferase
  • Carnitine O-Palmitoyltransferase
  • Carnitine O-Acetyltransferase