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SLC25A19 gene

solute carrier family 25 member 19

Normal Function

The SLC25A19 gene provides instructions for producing a protein that is a member of the solute carrier (SLC) family of proteins. Proteins in the SLC family transport various compounds across the membranes surrounding the cell and its component parts. The protein produced from the SLC25A19 gene transports a molecule called thiamine pyrophosphate into the mitochondria, the energy-producing centers of cells. Thiamine pyrophosphate is involved in the functioning of a group of mitochondrial enzymes called the alpha-ketoglutarate dehydrogenase complex. This complex acts on a compound called alpha-ketoglutaric acid as part of an important series of reactions known as the citric acid cycle or Krebs cycle. The transport of thiamine pyrophosphate into the mitochondria is believed to be important in brain development.

Health Conditions Related to Genetic Changes

Amish lethal microcephaly

All known individuals with Amish lethal microcephaly have a mutation in which the protein building block (amino acid) alanine is substituted for the amino acid glycine at position 177 of the SLC25A19 protein, written as Gly177Ala or G177A. Researchers believe that this mutation interferes with the transport of thiamine pyrophosphate into the mitochondria and the activity of the alpha-ketoglutarate dehydrogenase complex, resulting in the abnormal brain development and the excess of alpha-ketoglutaric acid in the urine characteristic of Amish lethal microcephaly.

More About This Health Condition

Leigh syndrome

MedlinePlus Genetics provides information about Leigh syndrome

More About This Health Condition

Other Names for This Gene

  • DNC
  • mitochondrial deoxynucleotide carrier
  • mitochondrial uncoupling protein 1
  • MUP1
  • solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19
  • solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
  • solute carrier family 25, member 19
  • TPC

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Gene and Variant Databases


  • Dolce V, Fiermonte G, Runswick MJ, Palmieri F, Walker JE. The human mitochondrial deoxynucleotide carrier and its role in the toxicity of nucleoside antivirals. Proc Natl Acad Sci U S A. 2001 Feb 27;98(5):2284-8. doi: 10.1073/pnas.031430998. Epub 2001 Feb 20. Citation on PubMed or Free article on PubMed Central
  • Iacobazzi V, Ventura M, Fiermonte G, Prezioso G, Rocchi M, Palmieri F. Genomic organization and mapping of the gene (SLC25A19) encoding the human mitochondrial deoxynucleotide carrier (DNC). Cytogenet Cell Genet. 2001;93(1-2):40-2. doi: 10.1159/000056945. Citation on PubMed
  • Lindhurst MJ, Fiermonte G, Song S, Struys E, De Leonardis F, Schwartzberg PL, Chen A, Castegna A, Verhoeven N, Mathews CK, Palmieri F, Biesecker LG. Knockout of Slc25a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic lethality, CNS malformations, and anemia. Proc Natl Acad Sci U S A. 2006 Oct 24;103(43):15927-32. doi: 10.1073/pnas.0607661103. Epub 2006 Oct 11. Citation on PubMed or Free article on PubMed Central
  • Rosenberg MJ, Agarwala R, Bouffard G, Davis J, Fiermonte G, Hilliard MS, Koch T, Kalikin LM, Makalowska I, Morton DH, Petty EM, Weber JL, Palmieri F, Kelley RI, Schaffer AA, Biesecker LG. Mutant deoxynucleotide carrier is associated with congenital microcephaly. Nat Genet. 2002 Sep;32(1):175-9. doi: 10.1038/ng948. Epub 2002 Aug 19. Citation on PubMed

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