SLC19A2
Function
High-affinity transporter for the intake of thiamine (PubMed:10391222, PubMed:10542220, PubMed:21836059, PubMed:33008889, PubMed:35512554, PubMed:35724964). Mediates H(+)-dependent pyridoxine transport (PubMed:33008889, PubMed:35512554, PubMed:35724964).
Involvement in disease
Thiamine-responsive megaloblastic anemia syndrome
TRMA
An autosomal recessive disease characterized by megaloblastic anemia, diabetes mellitus, and sensorineural deafness. Onset is typically between infancy and adolescence, but all of the cardinal findings are often not present initially. The anemia, and sometimes the diabetes, improves with high doses of thiamine. Other more variable features include optic atrophy, congenital heart defects, short stature, and stroke.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the reduced folate carrier (RFC) transporter (TC 2.A.48) family.
Tissue Specificity
Ubiquitous; most abundant in skeletal and cardiac muscle. Medium expression in placenta, heart, liver and kidney, low in lung.
Cellular localization
- Cell membrane
- Multi-pass membrane protein
Alternative names
THT1, TRMA, SLC19A2, Thiamine transporter 1, ThTr-1, ThTr1, Solute carrier family 19 member 2, Thiamine carrier 1, TC1