BBGD antikoerper, THMD2 antikoerper, THTR2 antikoerper, thtr2 antikoerper, MGC52872 antikoerper, MGC89434 antikoerper, si:dkey-223n17.4 antikoerper, slc19a3 antikoerper, A230084E24Rik antikoerper, AI788884 antikoerper, ThTr2 antikoerper, solute carrier family 19 member 3 antikoerper, solute carrier family 19 member 3 L homeolog antikoerper, solute carrier family 19 (thiamine transporter), member 3 antikoerper, thiamine transporter 2 antikoerper, solute carrier family 19 (thiamine transporter), member 3b antikoerper, solute carrier family 19, member 3 antikoerper, thiamine transporter 2-like antikoerper, SLC19A3 antikoerper, Slc19a3 antikoerper, slc19a3.L antikoerper, slc19a3 antikoerper, LOC486151 antikoerper, slc19a3b antikoerper, LOC100230080 antikoerper
Hintergrund
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.