anti-Solute Carrier Family 19, Member 3 Antibodies

Protein Summary

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.

Alternative names and synonyms associated with Solute Carrier Family 19, Member 3 (Slc19a3)

• solute carrier family 19 member 3 (SLC19A3) antibody
• solute carrier family 19 member 3 (Slc19a3) antibody
• solute carrier family 19 member 3 L homeolog (slc19a3.L) antibody
• solute carrier family 19 (thiamine transporter), member 3 (slc19a3) antibody
• thiamine transporter 2 (LOC486151) antibody
• Show all gene names
• solute carrier family 19 (thiamine transporter), member 3b (slc19a3b) antibody
• solute carrier family 19, member 3 (SLC19A3) antibody
• thiamine transporter 2-like (LOC100230080) antibody
• solute carrier family 19, member 3 (Slc19a3) antibody

• A230084E24Rik antibody
• AI788884 antibody
• BBGD antibody
• MGC52872 antibody
• MGC89434 antibody
• Show all synonym aliases
• si:dkey-223n17.4 antibody
• slc19a3 antibody
• THMD2 antibody
• ThTr2 antibody

Protein level used designations for Slc19a3

solute carrier family 19, member 3 , thTr-2 , thiamine transporter 2 , solute carrier family 19 (sodium/hydrogen exchanger), member 3 , thiamine transporter 2-like