SLC19A3
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Official Full Name
solute carrier family 19, member 3 -
Overview
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 Wernickes-like encephalopathy. -
Synonyms
SLC19A3;solute carrier family 19, member 3;thiamine transporter 2;THTR2;thTr 2;thTr-2
Recombinant Proteins
- Mouse
- Rhesus macaque
- Human
- Mammalian Cell
- HEK293
- Insect Cell
- E.coli
- HEK293T
- His
- Non
- His&Flag&MBP
- His&Flag&Strep
- Myc&DDK
- His&Fc&Avi
Involved Pathway
SLC19A3 involved in several pathways and played different roles in them. We selected most pathways SLC19A3 participated on our site, such as Vitamin digestion and absorption, which may be useful for your reference. Also, other proteins which involved in the same pathway with SLC19A3 were listed below. Creative BioMart supplied nearly all the proteins listed, you can search them on our site.
| Pathway Name | Pathway Related Protein |
|---|---|
| Vitamin digestion and absorption | LMBRD1,ABCC1,SLC52A3,PNLIP,SLC46A1,TCN2,SLC19A2,BTD,APOB,SLC23A1 |
Protein Function
SLC19A3 has several biochemical functions, for example, thiamine uptake transmembrane transporter activity. Some of the functions are cooperated with other proteins, some of the functions could acted by SLC19A3 itself. We selected most functions SLC19A3 had, and list some proteins which have the same functions with SLC19A3. You can find most of the proteins on our site.
| Function | Related Protein |
|---|---|
| thiamine uptake transmembrane transporter activity | C2orf83,SLC19A3B,SLC19A2 |
Interacting Protein
SLC19A3 has direct interactions with proteins and molecules. Those interactions were detected by several methods such as yeast two hybrid, co-IP, pull-down and so on. We selected proteins and molecules interacted with SLC19A3 here. Most of them are supplied by our site. Hope this information will be useful for your research of SLC19A3.
CREB3;C3orf38;CREB3L4;TAB2
Resources
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References
- Laverdiere, I; Guillemette, C; et al. Cyclosporine and methotrexate-related pharmacogenomic predictors of acute graft-versus-host disease. HAEMATOLOGICA 100:275-283(2015).
- Dahlin, A; Wittwer, M; et al. A pharmacogenetic candidate gene study of tenofovir-associated Fanconi syndrome. PHARMACOGENETICS AND GENOMICS 25:82-92(2015).
