SLC19A3

Also known as BBGD, THMD2, THTR2, solute carrier family 19 member 3, thTr-2

gene da espécie Homo sapiens

Gene data

SLC19A3

Name: solute carrier family 19 member 3
Type: protein-coding
Position: 227,683,763–227,718,088 (−)
Aliases: BBGD, THMD2, THTR2, hTHTR2, thTr-2
Ensembl: ENSG00000135917
RefSeq RNA: NM_001371411.1, NM_001371412.1, NM_001371413.1, NM_001371414.1, NM_025243.4
RefSeq protein: NP_001358340.1, NP_001358341.1, NP_001358342.1, NP_001358343.1, NP_079519.1

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].