Molecular characterization, genomic structure and expression analysis of a gene (CATL1/CPT1C) encoding a third member of the human carnitine acyltransferase family.

Τhe carnitine palmitoyltransferase (CPT) system is responsible for transporting long-chain acyl-CoAs from cytoplasm into the mitochondria. This system consists of two l-carnitine acyltransferases (CPT1 and CPT2) and the carnitine acylcarnitine translocase. In mammals, two CPT1 homologs (CPT1A and CPT1B) were previously described. By using positional cloning gene approaches, RT-PCR, and next-generation sequencing (NGS), we sought to identify novel human genes that might be involved in fatty acid metabolism. Thus, we discovered a third CPT1 homolog (CATL1/CPT1C), transcribed into two major protein-coding transcripts. This gene on chromosome 19q13.33 encodes a protein participating in the control of whole-body glucose homeostasis and is predominantly expressed in the central nervous system. Steroid hormones affect CPT1C mRNA expression in human prostate and breast cancer cell lines. Although the major involvement of CPT1C in fatty acid catabolism makes it a crucial gene for cellular homeostasis, its precise role in oxidative stress needs further investigation. Sequence data from this article have been deposited to the GenBank Data Library under Accession No. AF331918.1.