Product Name
SLC19A3, cDNA Clone
Full Product Name
SLC19A3 cDNA Clone
Product Gene Name
SLC19A3 cdna clone
[Similar Products]
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Sequence
atggattgtt acagaacttc actaagcagt tcctggattt accccactgt gatcctctgc ttatttggtt ttttctccat gatgagaccc tcagaaccgt tccttatccc atatttatct ggaccagata aaaacctgac cagtgcagag ataacaaatg agatcttccc cgtttggaca tactcctacc tggtgctgct gctgcctgtg tttgtcctca ccgattatgt ccgctacaag ccagtcatca tcttgcaagg tatcagtttc atcattacct ggctgctgct gttgtttggc caaggagtga agaccatgca ggttgtagag ttcttctatg ggatggtcac cgccgccgag gtggcctact acgcctacat atacagcgtg gtcagccccg agcactacca gagagtgagc ggctactgca ggagcgtcac gctggccgcc tacacagcag ggtcggtgct ggctcaactc ttggtatccc tggcgaacat gtcgtacttt tacctcaacg tcatatcctt ggcctctgtc tccgtggctt tccttttctc acttttccta ccaatgccca agaaaagcat gttttttcat gcaaaaccca gcagagaaat aaagaagtca tcaagcgtga atccagtatt agaggaaact cacgaaggtg aagcaccagg ctgtgaagag cagaaaccca catcagaaat actcagcact tcagggaagc tgaataaggg ccagctgaac agcctgaaac caagcaatgt gactgtggac gtttttgtgc agtggttcca agatttgaag gagtgctact cctcaaaacg tcttttctac tggtctctat ggtgggcttt cgccacagca ggttttaacc aggttttgaa ctatgttcaa atcctgtggg attacaaggc gccatcccaa gattcttcca tctataatgg ggccgtagaa gctattgcaa cctttggagg ggctgtggct gcctttgcag tgggttatgt gaaagtcaac tgggaccttc tgggagagct ggctctggtg gtcttctcag ttgtcaatgc cggttcttta tttctcatgc attacacagc caatatctgg gcgtgctatg ctggctattt gatattcaag tccagctata tgcttcttat aaccatagca gtatttcaga ttgcagttaa tctgaatgtg gaacgctatg ccttggtatt tggaatcaac acctttattg ccttggtgat tcagaccatc atgactgtga ttgtagtaga tcagagaggg ctcaacttgc cagtcagcat tcagttttta gtttatggga gctattttgc agtaattgct ggaattttcc taatgagaag catgtatatt acctactcaa ccaaatccca gaaggatgta cagagccctg ctccaagtga gaatccagat gtgtctcacc cagaggaaga gagtaatatc atcatgtcaa caaaactcta a
Clone Sequence Report
Provided with product shipment
ISO Certification
Manufactured in an ISO 13485:2003 and EN ISO 13485:2012 Certified Laboratory.
Other Notes
Small volumes of SLC19A3 cdna clone vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
NCBI/Uniprot data below describe general gene information for SLC19A3. It may not necessarily be applicable to this product.
NCBI Accession #
BC032014
[Other Products]
UniProt Related Accession #
Q9BZV2[Other Products]
Molecular Weight
55,665 Da
NCBI Official Full Name
Homo sapiens solute carrier family 19, member 3, mRNA
NCBI Official Synonym Full Names
solute carrier family 19 member 3
NCBI Official Symbol
SLC19A3??[Similar Products]
NCBI Official Synonym Symbols
BBGD; THMD2; THTR2
??[Similar Products]
NCBI Protein Information
thiamine transporter 2
UniProt Protein Name
Thiamine transporter 2
UniProt Synonym Protein Names
Solute carrier family 19 member 3
Protein Family
Thiamine transporter
UniProt Gene Name
SLC19A3??[Similar Products]
UniProt Synonym Gene Names
ThTr-2; ThTr2??[Similar Products]
UniProt Entry Name
S19A3_HUMAN
NCBI Summary for SLC19A3
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 Comments for SLC19A3
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; Transporter, SLC family; Membrane protein, multi-pass; Membrane protein, integral
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
1. large genomic deletions occur in the regulatory region of SLC19A3 in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice.
It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
