Title : Disruption of transport activity in a D93H mutant thiamine transporter 1, from a Rogers Syndrome family.

Pub. Date : 2003 Nov

PMID : 14622275






3 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 The gene associated with this disease encodes for thiamine transporter 1 (THTR1), a member of the SLC19 solute carrier family including THTR2 and the reduced folate carrier (RFC). Folic Acid solute carrier family 19 member 2 Homo sapiens
2 The gene associated with this disease encodes for thiamine transporter 1 (THTR1), a member of the SLC19 solute carrier family including THTR2 and the reduced folate carrier (RFC). Folic Acid solute carrier family 19 member 2 Homo sapiens
3 However, while this mutant THTR1 was targeted to the plasma membrane, it was completely devoid of thiamine transport activity. Thiamine solute carrier family 19 member 2 Homo sapiens