Aliases for SLC19A2 Gene
External Ids for SLC19A2 Gene
Previous HGNC Symbols for SLC19A2 Gene
Previous GeneCards Identifiers for SLC19A2 Gene
This gene encodes the thiamin transporter protein. Mutations in this gene cause thiamin-responsive megaloblastic anemia syndrome (TRMA), which is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural deafness. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
GeneCards Summary for SLC19A2 Gene
SLC19A2 (Solute Carrier Family 19 Member 2) is a Protein Coding gene. Diseases associated with SLC19A2 include Thiamine-Responsive Megaloblastic Anemia Syndrome and Megaloblastic Anemia. Among its related pathways are Metabolism of water-soluble vitamins and cofactors and Vitamin digestion and absorption. Gene Ontology (GO) annotations related to this gene include folic acid transmembrane transporter activity and thiamine transmembrane transporter activity. An important paralog of this gene is SLC19A3.
UniProtKB/Swiss-Prot Summary for SLC19A2 Gene
High-affinity transporter for the intake of thiamine.