Slc19a3 Gene Search Result

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3 records found for search term Slc19a3

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RGD ID	Symbol	Name	Description	Chr	Start	Stop	Species	Annotations	Match	Type
1322863	SLC19A3	solute carrier family 19 member 3	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, quadripar ... (more) esis, 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]	2	227683763	227718028	Human	234	symbol , COSMIC , Human Proteome Map	gene, protein-coding, REVIEWED [RefSeq]
16556772	AC073324.1	solute carrier family 19, member 3 (SLC19A3) pseudogene		7	55244247	55245681	Human		name	gene, pseudo, INFERRED [RefSeq]
16563490	AL391840.2	solute carrier family 19, member 3 (SLC19A3) pseudogene					Human		name	gene, processed_pseudogene