SLC19A3
solute carrier family 19 (thiamine transporter), member 3
Synonyms:
BBGD, THMD2, THTR2
Species:
Human SLC19A3 (80704), Mouse Slc19a3 (80721), Rat Slc19a3 (316559), domestic guinea pig Slc19a3 (100731585), naked mole-rat Slc19a3 (101715703), Domestic Rabbit SLC19A3 (100341170), cow SLC19A3 (537280), chicken SLC19A3 (424792), dog SLC19A3 (486151)
UniProtKB ID:
Gene ID:
- Human(80704) 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 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]
- Mouse(80721) solute carrier family 19, member 3
- Rat(316559) solute carrier family 19 (thiamine transporter), member 3
- domestic guinea pig(100731585) solute carrier family 19, member 3
- naked mole-rat(101715703) solute carrier family 19, member 3
- Domestic Rabbit(100341170) solute carrier family 19, member 3
- cow(537280) solute carrier family 19, member 3
- chicken(424792) solute carrier family 19, member 3
- dog(486151) solute carrier family 19, member 3
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Antibodies
Product Number
Description
Species Reactivity
Application
Anti-SLC19A3 antibody produced in rabbit, affinity isolated antibody,
Species Reactivity
guinea pig, human, mouse, rat
Application
western blot
Monoclonal Anti-SLC19A3 antibody produced in mouse, clone 3B2, purified immunoglobulin, buffered aqueous solution,
Species Reactivity
human
Application
ELISA