SLC19A3
Function
Mediates high affinity thiamine uptake, probably via a proton anti-port mechanism (PubMed:11731220, PubMed:33008889, PubMed:35512554, PubMed:35724964). Has no folate transport activity (PubMed:11731220). Mediates H(+)-dependent pyridoxine transport (PubMed:33008889, PubMed:35512554, PubMed:35724964, PubMed:36456177).
Involvement in disease
Basal ganglia disease, biotin-thiamine responsive
BBTGD
An autosomal recessive metabolic disorder characterized by episodic encephalopathy, often triggered by febrile illness, presenting as confusion, seizures, external ophthalmoplegia, dysphagia, and sometimes coma and death. If untreated, encephalopathies can result in permanent dystonia. Brain imaging may show characteristic bilateral lesions of the basal ganglia.
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
Widely expressed but most abundant in placenta, kidney and liver.
Cellular localization
- Membrane
- Multi-pass membrane protein
Alternative names
Thiamine transporter 2, ThTr-2, ThTr2, Solute carrier family 19 member 3, SLC19A3