Entrez Summary: 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].
UniProt Summary: High-affinity transporter for the intake of thiamine. {ECO:0000269|PubMed:10391222, ECO:0000269|PubMed:10542220}.
Pfam DomainsGO Terms
Pfam Domains
Folate carrier
MFS 1
GO Terms
thiamine transmembrane transport
thiamine transmembrane transporter activity
thiamine transport
folic acid transmembrane transporter activity
thiamine-containing compound metabolic process
folic acid transport
pyrimidine-containing compound transmembrane transport
vitamin transmembrane transport
azole transport
modified amino acid transport
vitamin transport
sulfur compound transport
cofactor transport
drug transmembrane transport
dicarboxylic acid transport
water-soluble vitamin metabolic process
pyrimidine-containing compound metabolic process
vitamin metabolic process
drug transport
carboxylic acid transport
organic acid transport
sulfur compound metabolic process
organic anion transport
drug metabolic process
anion transport
response to drug
transmembrane transport
ion transport
amide transport
small molecule metabolic process
nitrogen compound transport
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)