SLC19A2
Lua error in Module:Infobox_gene at line 33: attempt to index field 'wikibase' (a nil value). 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.[1][2][3] SLC19A2 is a thiamine transporter.
In melanocytic cells SLC19A2 gene expression may be regulated by MITF.[4]
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.[5]
References
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Further reading
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External links
- GeneReviews/NIH/NCBI/UW entry on Thiamine-Responsive Megaloblastic Anemia or Rogers Syndrome
- SLC19A2 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
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