Thiamine transporter 1

SLC19A2
Identifiers
AliasesSLC19A2, TC1, THMD1, THT1, THTR1, TRMA, solute carrier family 19 member 2
External IDsOMIM: 603941; MGI: 1928761; HomoloGene: 38258; GeneCards: SLC19A2; OMA:SLC19A2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

10560

116914

Ensembl

ENSG00000117479

ENSMUSG00000040918

UniProt

O60779

Q9EQN9

RefSeq (mRNA)

NM_006996
NM_001319667

NM_001276455
NM_054087

RefSeq (protein)

NP_001306596
NP_008927

NP_001263384
NP_473428

Location (UCSC)Chr 1: 169.46 – 169.49 MbChr 1: 164.08 – 164.09 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

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. Mutations in this gene cause thiamine-responsive megaloblastic anemia syndrome (TRMA), which is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural deafness.