Gene Symbol | SLC19A2 |
Entrez Gene ID | 10560 |
Full Name | solute carrier family 19 member 2 |
Synonyms | TC1,THMD1,THT1,THTR1,TRMA |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Thiamine-responsive megaloblastic anemia syndrome, 249270 (3) |