Rabbit anti-Human, Mouse solute carrier family 19, member 3 Polyclonal Antibody | anti-SLC19A3 antibody
Rabbit anti-human solute carrier family 19, member 3 polyclonal Antibody
NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
SLC19A3: Mediates high affinity thiamine uptake, propably via a proton anti-port mechanism. Has no folate transport activity. Defects in SLC19A3 are the cause of biotin-responsive basal ganglia disease (BBGD). BBGD is a recessive disorder with childhood onset that presents as a subacute encephalopathy, with confusion, dysarthria, and dysphagia, and that progresses to severe rigidity, dystonia, quadriparesis and death if not treated. Belongs to the reduced folate carrier (RFC) transporter (TC 2.A.48) family.
Protein type: Transporter, SLC family; Transporter; Membrane protein, integral; Membrane protein, multi-pass
Chromosomal Location of Human Ortholog: 2q37
Cellular Component: plasma membrane; integral to membrane
Molecular Function: thiamin uptake transmembrane transporter activity
Biological Process: vitamin metabolic process; thiamin and derivative metabolic process; water-soluble vitamin metabolic process
Disease: Thiamine Metabolism Dysfunction Syndrome 2 (biotin- Or Thiamine-responsive Type)
Research Articles on SLC19A3
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Product Notes
The SLC19A3 slc19a3 (Catalog #AAA714365) is an Antibody produced from Rabbit and is intended for research purposes only. The product is available for immediate purchase. The Rabbit anti-human solute carrier family 19, member 3 polyclonal Antibody reacts with Human, Mouse and may cross-react with other species as described in the data sheet. AAA Biotech's solute carrier family 19, member 3 can be used in a range of immunoassay formats including, but not limited to, ELISA (EIA), Western Blot (WB). Researchers should empirically determine the suitability of the SLC19A3 slc19a3 for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process. It is sometimes possible for the material contained within the vial of "solute carrier family 19, member 3, Polyclonal Antibody" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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