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MGP004286

UniProt Annotations

Entry Information
Gene Namesolute carrier family 19 (thiamine transporter), member 2
Protein EntryS19A2_HUMAN
UniProt IDO60779
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=O60779-1; Sequence=Displayed; Name=2; IsoId=O60779-2; Sequence=VSP_036467;
DiseaseThiamine-responsive megaloblastic anemia syndrome (TRMA) [MIM:249270]: An autosomal recessive disease characterized by megaloblastic anemia, diabetes mellitus, and sensorineural deafness. Onset is typically between infancy and adolescence, but all of the cardinal findings are often not present initially. The anemia, and sometimes the diabetes, improves with high doses of thiamine. Other more variable features include optic atrophy, congenital heart defects, short stature, and stroke. {ECO:0000269|PubMed:10391221, ECO:0000269|PubMed:10874303}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionHigh-affinity transporter for the intake of thiamine.
Sequence CautionSequence=BAG64936.1; Type=Erroneous initiation; Evidence={ECO:0000305};
SimilarityBelongs to the reduced folate carrier (RFC) transporter (TC 2.A.48) family. {ECO:0000305}.
Subcellular LocationMembrane; Multi-pass membrane protein.
Tissue SpecificityUbiquitous; most abundant in skeletal and cardiac muscle. Medium expression in placenta, heart, liver and kidney, low in lung.
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