SLC19A3 blocking peptide
SLC19A3 Antibody (Center) Blocking peptide
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: Membrane protein, multi-pass; Transporter, SLC family; Membrane protein, integral; Transporter
Chromosomal Location of Human Ortholog: 2q37
Cellular Component: integral to plasma membrane; plasma membrane
Molecular Function: thiamin transmembrane transporter activity; thiamin uptake transmembrane transporter activity
Biological Process: thiamin and derivative 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 #AAA9225629) is a Blocking Peptide and is intended for research purposes only. The product is available for immediate purchase. It is sometimes possible for the material contained within the vial of "SLC19A3, Blocking Peptide" 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
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