title: The evidence that the DNC (SLC25A19) is not the mitochondrial deoxyribonucleotide carrier.
abstract: We review the evidence that the function of the SLC25A19 gene product, previously identified as the mitochondrial deoxyribonucleotide carrier (DNC), is actually the transport of thiamine pyrophosphate. This evidence comes from enzyme kinetics, homologous yeast protein alignments, gene knockout studies, and clinical samples from Amish Microcephaly patients. This diverse body of evidence consistently points to the conclusion that SLC25A19 is not the true mitochondrial DNC gene. The identification of the correct mitochondrial DNC is important for research on the genetic diseases of mitochondrial DNA maintenance and the toxicity experienced by many HIV patients undergoing antiretroviral therapy involving nucleoside analogs.
authors.affiliation: Virginia Bioinformatics Institute, Virginia Polytechnic and State University, Washington Street, MC 0477, Blacksburg, VA 24061, USA.
authors.forename: Jonghoon
authors.initials: J
authors.lastname: Kang
authors.forename: David C
authors.initials: DC
authors.lastname: Samuels
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D027321:Anion Transport Proteins / Q000172:deficiency / Q000502:physiology*; D006801:Humans; D007700:Kinetics; D026901:Membrane Transport Proteins / Q000502:physiology*; D051379:Mice; D018345:Mice, Knockout; D033681:Mitochondrial Membrane Transport Proteins; D024101:Mitochondrial Proteins / Q000172:deficiency / Q000502:physiology*; D008969:Molecular Sequence Data; D016415:Sequence Alignment; D013835:Thiamine Pyrophosphate / Q000378:metabolism
chemical_list: D027321:Anion Transport Proteins; D026901:Membrane Transport Proteins; D033681:Mitochondrial Membrane Transport Proteins; D024101:Mitochondrial Proteins; C434255:SLC25A19 protein, human; C515239:Slc25a19 protein, mouse; D013835:Thiamine Pyrophosphate