Orders Processing,
Shipping & Receiving,
Warehouse
2 Shaker Rd Suites
B001/B101
Shirley, MA 01464
Production Lab
Floor 6, Suite 620
20700 44th Avenue W
Lynnwood, WA 98036
SLC19A3 is 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.
Gene Name: | solute carrier family 19 (thiamine transporter), member 3 |
Family/Subfamily: | Transporter , Reduced folate carrier |
Synonyms: | SLC19A3, Thiamine transporter 2, ThTr-2, THMD2, BBGD, THTR2 |
Target Sequences: | NM_025243 NP_079519.1 Q9BZV2 |
If you do not find the reagent or information you require, please contact Customer.Support@LSBio.com to inquire about additional products in development.