| SLC19A3 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | SLC19A3 , BBGD, THMD2, THTR2, solute carrier family 19 member 3, thTr-2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 606152 MGI: 1931307 HomoloGene: 23530 GeneCards: SLC19A3 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Thiamine transporter 2 (ThTr-2), also known as solute carrier family 19 member 3, is a protein that in humans is encoded by the SLC19A3 gene. [5] [6] [7] SLC19A3 is a thiamine transporter.
ThTr-2 is a ubiquitously expressed transmembrane thiamine transporter that lacks folate transport activity. [5]
It is specifically inhibited by chloroquine. [8]
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. [5]
Neutral and basic amino acid transport protein rBAT is a protein that in humans is encoded by the SLC3A1 gene.
Thiamine transporter 1, also known as thiamine carrier 1 (TC1) or solute carrier family 19 member 2 (SLC19A2) is a protein that in humans is encoded by the SLC19A2 gene. SLC19A2 is a thiamine transporter. Mutations in this gene cause thiamine-responsive megaloblastic anemia syndrome (TRMA), which is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural deafness.
Folate transporter 1 is a protein which in humans is encoded by the SLC19A1 gene.
Electrogenic sodium bicarbonate cotransporter 1, sodium bicarbonate cotransporter is a membrane transport protein that in humans is encoded by the SLC4A4 gene.
Equilibrative nucleoside transporter 2 (ENT2) is a protein that in humans is encoded by the SLC29A2 gene.
Urea transporter 1 is a protein that in humans is encoded by the SLC14A1 gene.
Concentrative nucleoside transporter 1 (CNT1) is a protein that in humans is encoded by the SLC28A1 gene.
Anion exchange protein 3 is a membrane transport protein that in humans is encoded by the SLC4A3 gene. AE3 is functionally similar to the Band 3 Cl−/HCO3− exchange protein but it is expressed primarily in brain neurons and in the heart. Like AE2 its activity is sensitive to pH. AE3 mutations have been linked to seizures.
Sodium- and chloride-dependent taurine transporter is a protein that in humans is encoded by the SLC6A6 gene.
Solute carrier family 26 member 6 is a protein that in humans is encoded by the SLC26A6 gene. It is an anion-exchanger expressed in the apical membrane of the kidney proximal tubule, the apical membranes of the duct cells in the pancreas, and the villi of the duodenum.
Sodium-dependent multivitamin transporter is a protein that in humans is encoded by the SLC5A6 gene.
Sodium/myo-inositol cotransporter is a protein that in humans is encoded by the SLC5A3 gene.
Urea transporter 2 is a protein that in humans is encoded by the SLC14A2 gene.
Sodium-dependent phosphate transporter 2 is a protein that in humans is encoded by the SLC20A2 gene.
Solute carrier family 13 member 3 also called sodium-dependent dicarboxylate transporter (NaDC3) is a protein that in humans is encoded by the SLC13A3 gene.
Solute carrier family 22 member 9 is a protein that in humans is encoded by the SLC22A9 gene.
The organic anion transporter 1 (OAT1) also known as solute carrier family 22 member 6 (SLC22A6) is a protein that in humans is encoded by the SLC22A6 gene. It is a member of the organic anion transporter (OAT) family of proteins. OAT1 is a transmembrane protein that is expressed in the brain, the placenta, the eyes, smooth muscles, and the basolateral membrane of proximal tubular cells of the kidneys. It plays a central role in renal organic anion transport. Along with OAT3, OAT1 mediates the uptake of a wide range of relatively small and hydrophilic organic anions from plasma into the cytoplasm of the proximal tubular cells of the kidneys. From there, these substrates are transported into the lumen of the nephrons of the kidneys for excretion. OAT1 homologs have been identified in rats, mice, rabbits, pigs, flounders, and nematodes.
The proton-coupled folate transporter is a protein that in humans is encoded by the SLC46A1 gene. The major physiological roles of PCFTs are in mediating the intestinal absorption of folate, and its delivery to the central nervous system.
Sodium- and chloride-dependent betaine transporter, also known as Na(+)/Cl(-) betaine/GABA transporter (BGT-1), is a protein that in humans is encoded by the SLC6A12 gene. BGT-1 is predominantly expressed in the liver (hepatocytes). It is also expressed in the kidney where it is regulated by NFAT5 during a response to osmotic stress. Further, BGT1 is also present in the leptomeninges surrounding the brain. Deletion of the BGT1 gene in mice did not appear to have any impact on the tendency to develop epilepsy. This is to be expected considering that BGT1 is expressed at far lower levels than GAT1 and also has lower affinity for GABA. This implies that it is not likely to contribute significantly to the inactivation of the inhibitory neurotransmitter GABA.
Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a rare disease that affects the nervous system, particularly the basal ganglia in the brain. It is a treatable neurometabolic disorder with autosomal recessive inheritance. First described in 1998 and then genetically distinguished in 2005, the disease is characterized by progressive brain damage that, if left untreated, can lead to coma and/or death. Commonly observed in individuals with BTBGD is recurring subacute encephalopathy along with confusion, seizures, and disordered movement (hypokinesia).
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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