Aliases for SLC19A2 Gene
External Ids for SLC19A2 Gene
Previous Symbols 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. [provided by RefSeq, Jul 2008]
GeneCards Summary for SLC19A2 Gene
SLC19A2 (Solute Carrier Family 19 (Thiamine Transporter), Member 2) is a Protein Coding gene. Diseases associated with SLC19A2 include thiamine-responsive megaloblastic anemia syndrome and monogenic diabetes. Among its related pathways are Disease and Metabolism. GO annotations related to this gene include folic acid binding and reduced folate carrier activity. An important paralog of this gene is SLC19A3.
UniProtKB/Swiss-Prot for SLC19A2 Gene
High-affinity transporter for the intake of thiamine