Thiamine transporter 2 (IPR028337)
Short name: ThTr-2
Overlapping homologous superfamilies
- Reduced folate carrier (IPR002666)
- Thiamine transporter 2 (IPR028337)
Thiamine transporter 2 (ThTr-2, also known as SLC19A3) belongs to the reduced folate carrier (RFC) transporter family (IPR002666). However, it has no folate transport activity. It mediates high affinity thiamine uptake, propably via a proton anti-port mechanism [PMID: 11731220].
Mutations in ThTr-2 genes cause the thiamine-responsive megaloblastic anemia syndrome (TRMA), which is an autosomal recessive disease characterised by megaloblastic anemia, diabetes mellitus, and sensorineural deafness [PMID: 10391221, PMID: 10874303].
- PIRSF500795 (Thiamine_transporter_2)