Symbol: Name: ID: |
SLC19A3 solute carrier family 19, member 3 GFS:5394 |
Gene name: | SLC19A3 |
Chromosome: | 2q37 |
Previous Symbols: | |
Previous Names: | |
Aliases: | THTR2 |
Name Aliases: | thiamine transporter 2 |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:1931307 | Rat Genome Database ID: | RGD:1311413 |
HGNC ID: | HGNC:16266 | RefSeq IDs: | NM_025243 |
Entrez Gene ID: | 80704 | Ensembl Gene ID: | ENSG00000135917 |
VEGA IDs: | OTTHUMG00000133185 | UniProt ID: | Q9BZV2 |
UCSC ID: | uc002vpi.2 | OMIM ID: | 606152 |
Pubmed: | PMID11136550 PMID 15871139 | ||
CCDS IDs: | CCDSCCDS2468.1 |
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 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.[provided by RefSeq, Jan 2010]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
Function: Mediates high affinity thiamine uptake, propably via a proton anti-port mechanism. Has no folate transport activity.
Products for SLC19A3 gene
Catalog | Product Name | Application | Company |
GFS:E05394 | solute carrier family 19, member 3; ELISA kit | ELISA | n/a |
GFS:A05394 | solute carrier family 19, member 3; Anti | ANTIBODIES | n/a |
GFS:P05394 | solute carrier family 19, member 3; Protien | Protien | n/a |