Species Human Entrez 10560 | Human Mouse Ensembl ENSG00000117479 | |
Aliases SLC19A2, TC1, THMD1, THT1, THTR1, TRMA, solute carrier family 19 member 2 External IDs MGI: 1928761 HomoloGene: 38258 GeneCards: SLC19A2 | ||
Thiamine transporter 1, also known as thiamine carrier 1 (TC1) or solute carrier family 19 member 2 (SLC19A2) is a protein that in humans is encoded by the SLC19A2 gene. SLC19A2 is a thiamine transporter.
In melanocytic cells SLC19A2 gene expression may be regulated by MITF.
Clinical significance
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.
References
SLC19A2 Wikipedia(Text) CC BY-SA