QuickView for ThTr2 (gene)

Gene Symbol:

SLC19A3 Homo sapiens

Full name:

solute carrier family 19 member 3

Synonyms:

BBGD, THMD2, THTR2, thiamine transporter 2, solute carrier family 19 (thiamine transporter), member 3, thTr-2

Genomic Location:

Chr 2: 228258170-228290989

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 h...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  Macaca mulatta ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

OCT1_05 ,  OCT1_B ,  OCT1_01 ,  CEBPB_02

miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-140

Cytogenetic Map:

2q36.3

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