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SLC19A3 Full-Length ORF: Human Gene Retrovirus
Gene ID: 80704
Synonym(s): BBGD, hTHTR2, THMD2, thTr-2, THTR2
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 cognitive disability, 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].This ORF sequence encodes a protein that is exactly the same as the proteins of NM_025243, NM_001371411, NM_001371412. The protein has 22 functional sites and/or regions.
Catalog Number | Product | Size | Price | Qty |
---|---|---|---|---|
ET-105675-RV-50
|
SLC19A3 Retrovirus Particles (MSCV, PuroR)
|
2x25 ul per vial, 1x10^8 TU/ml |
Price:
$700.00
|
|
ET-105675-RV-200
|
SLC19A3 Retrovirus Particles (MSCV, PuroR)
|
8x25 ul per vial, 1x10^8 TU/ml |
Price:
$1,200.00
|
|
ET-105675-RV-pd
|
SLC19A3 Retrovirus Transfer Vector (MSCV, PuroR): Glycerol Stock
|
1 vial |
Price:
$1,200.00
|