SLC19A3
solute carrier family 19 (thiamine transporter), member 3
동의어:
BBGD, THMD2, THTR2
종:
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:
Clone 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
제품 번호
설명
종별 반응성
응용분야
Anti-SLC19A3 antibody produced in rabbit, affinity isolated antibody,
종별 반응성
guinea pig, human, mouse, rat
응용분야
western blot
Monoclonal Anti-SLC19A3 antibody produced in mouse, clone 3B2, purified immunoglobulin, buffered aqueous solution,
종별 반응성
human
응용분야
ELISA