Aliases for SLC25A19 Gene
External Ids for SLC25A19 Gene
Previous HGNC Symbols for SLC25A19 Gene
Previous GeneCards Identifiers for SLC25A19 Gene
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]
GeneCards Summary for SLC25A19 Gene
SLC25A19 (Solute Carrier Family 25 Member 19) is a Protein Coding gene. Diseases associated with SLC25A19 include Microcephaly, Amish Type and Thiamine Metabolism Dysfunction Syndrome 4. Among its related pathways are Metabolism of water-soluble vitamins and cofactors and Metabolism. Gene Ontology (GO) annotations related to this gene include deoxynucleotide transmembrane transporter activity. An important paralog of this gene is SLC25A12.
UniProtKB/Swiss-Prot Summary for SLC25A19 Gene
Mitochondrial transporter mediating uptake of thiamine pyrophosphate (ThPP) into mitochondria.