SLC25A19, Official Symbol SLC25A19provided by HGNC Official Full Name solute carrier family 25 member 19provided by HGNC Primary source HGNC:HGNC:14409 See related Ensembl:ENSG00000125454 MIM:606521; AllianceGenome:HGNC:14409 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DNC; TPC; MUP1; MCPHA; MTPPT; THMD3; THMD4 Summary 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] Expression Broad expression in testis (RPKM 8.3), lymph node (RPKM 4.5) and 24 other tissues See more Orthologs mouse all