SLC19A3
Gene Information
- Official Symbol: SLC19A3
- Official Name: solute carrier family 19 member 3
- Aliases and Previous Symbols: N/A
- Entrez ID: 80704
- UniProt: Q9BZV2
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: Open OMIM
Function Summary
- Entrez 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 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].
- UniProt Summary: Mediates high affinity thiamine uptake, probably via a proton anti-port mechanism. Has no folate transport activity. {ECO:0000269|PubMed:11731220}.
CRISPR Data
Essentiality in NALM6
- Essentiality Rank: 18589
- Expression level (log2 read counts): 2.43
SLC19A3 Expression in NALM6 Cells: 2.43
