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MGP005997

UniProt Annotations

Entry Information
Gene Namesolute carrier family 19 (thiamine transporter), member 3
Protein EntryS19A3_HUMAN
UniProt IDQ9BZV2
SpeciesHuman
Comments
Comment typeDescription
DiseaseThiamine metabolism dysfunction syndrome 2, biotin- or thiamine-responsive type (THMD2) [MIM:607483]: An autosomal recessive metabolic disorder characterized by episodic encephalopathy, often triggered by febrile illness, presenting as confusion, seizures, external ophthalmoplegia, dysphagia, and sometimes coma and death. If untreated, encephalopathies can result in permanent dystonia. Brain imaging may show characteristic bilateral lesions of the basal ganglia. {ECO:0000269|PubMed:15871139}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionMediates high affinity thiamine uptake, propably via a proton anti-port mechanism. Has no folate transport activity. {ECO:0000269|PubMed:11731220}.
SimilarityBelongs to the reduced folate carrier (RFC) transporter (TC 2.A.48) family. {ECO:0000305}.
Subcellular LocationMembrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
Tissue SpecificityWidely expressed but most abundant in placenta, kidney and liver. {ECO:0000269|PubMed:11136550, ECO:0000269|PubMed:15871139}.
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