thiamine transporter 1 (ThTr1, thiamine carrier 1, TC1, solute carrier family 19 member 2, SLC19A2, THT1, TRMA)

Function

• high-affinity transporter for the intake of thiamine

Structure

• belongs to the reduced folate carrier (RFC) transporter (TC 2.A.48) family

Compartment

membrane

Expression

• ubiquitous
• expressed in skeletal & cardiac muscle > placenta, heart, liver & kidney > lung

Pathology

• defects in SLC19A2 are the cause of thiamine-responsive megaloblastic anemia syndrome

More general terms

• solute carrier family 19 (SLC19, SLC19A)
• transmembrane 12 protein
• glycoprotein

Database

• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:1056
• OMIM: https://mirror.omim.org/entry/249270
• OMIM: https://mirror.omim.org/entry/603941
• UniProt: http://www.uniprot.org/uniprot/O60779.html