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SLC25A19, solute carrier family 25 member 19

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SLC25A19, solute carrier family 25 member 19

  • This gene encodes a mitochondrial protein that is a member of the solute carrier family. Although this protein was initially thought to be the mitochondrial deoxynucleotide carrier involved in the uptake of deoxynucleotides into the matrix of the mitochondria, further studies have demonstrated that this protein instead functions as the mitochondrial thiamine pyrophosphate carrier, which transports thiamine pyrophosphates into mitochondria. Mutations in this gene cause microcephaly, Amish type, a metabolic disease that results in severe congenital microcephaly, severe 2-ketoglutaric aciduria, and death within the first year. Multiple alternatively spliced variants, encoding the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]

  • Gene Synonyms (mitochondrial thiamine pyrophosphate carrier, mitochondrial uncoupling protein 1, solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19, solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19, DNC, MCPHA, MUP1, THMD3, THMD4, TPC,)
  • NCBI Gene ID: 60386
  • Species: Homo sapiens (Human)
  • UNIPROT ID#>>Q9HC21
    UNIPROT ID#>>Q5JPC1
  • View the NCBI Database for this Gene »

The information on this page was collected from publicly accessible databases, and is periodically updated. Promega makes no claims to accuracy, or ownership of these genes.

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

solute carrier family 25 member 19 interacts with:

The information on this page was collected from publicly accessible databases, and is periodically updated. Promega makes no claims to accuracy, or ownership of these genes.

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.

The information on this page was collected from publicly accessible databases, and is periodically updated. Promega makes no claims to accuracy, or ownership of these genes.

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