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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for SLC25A19 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID60386
Official gene symbolSLC25A19
Full namesolute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
Aliases,DNC,MCPHA,MUP1,TPC,
Gene summaryThis 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]
LocationChromosome: 17   Locus: 17q25.3
Gene position73285530 - 73269061  Map Viewer
Gene orientationminus
Gene size16470 bp
Gene sequence
OMIM ID606521