SLC19A3, Official Symbol SLC19A3provided by HGNC Official Full Name solute carrier family 19 member 3provided by HGNC Primary source HGNC:HGNC:16266 See related Ensembl:ENSG00000135917 MIM:606152; AllianceGenome:HGNC:16266 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BBGD; THMD2; THTR2; hTHTR2; thTr-2 Summary This gene encodes a ubiquitously expressed transmembrane thiamine transporter that lacks folate transport activity. Mutations in this gene cause biotin-responsive basal ganglia disease (BBGD); a recessive disorder manifested in childhood that progresses to chronic encephalopathy, dystonia, quadriparesis, and death if untreated. Patients with BBGD have bilateral necrosis in the head of the caudate nucleus and in the putamen. Administration of high doses of biotin in the early progression of the disorder eliminates pathological symptoms while delayed treatment results in residual paraparesis, mild cognitive disability, or dystonia. Administration of thiamine is ineffective in the treatment of this disorder. Experiments have failed to show that this protein can transport biotin. Mutations in this gene also cause a Wernicke's-like encephalopathy.[provided by RefSeq, Jan 2010] Expression Biased expression in fat (RPKM 29.6), placenta (RPKM 8.5) and 5 other tissues See more Orthologs mouse all