Reactivities: | Human |
Presku: | AAP63507 |
Size: | 100ug |
Weight: | 55kDa |
Gene: | The peptide is characterized by mass spectroscopy |
Format: | Lyophilized powder |
Target: | 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. |
Alternative names: | TC1; THT1; THTR1; TRMA |