Aliases for SLC19A3 Gene
External Ids for SLC19A3 Gene
Previous GeneCards Identifiers for SLC19A3 Gene
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 mental retardation, 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]
GeneCards Summary for SLC19A3 Gene
SLC19A3 (Solute Carrier Family 19 Member 3) is a Protein Coding gene. Diseases associated with SLC19A3 include Thiamine Metabolism Dysfunction Syndrome 2 and Infantile Spams-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome. Among its related pathways are Vitamin digestion and absorption and Metabolism of water-soluble vitamins and cofactors. GO annotations related to this gene include thiamine uptake transmembrane transporter activity. An important paralog of this gene is SLC19A2.
UniProtKB/Swiss-Prot for SLC19A3 Gene
Mediates high affinity thiamine uptake, propably via a proton anti-port mechanism. Has no folate transport activity.