SLC19A3

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]

Description

Solute carrier family 19 member 3

Tissue specificity

Tissue enhanced (adipose tissue, breast, placenta)

Subcell location

Nucleoplasm, Plasma membrane, Cytosol

Predicted location

Membrane

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Potential drug targets
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Transporters

Chromosome

2 (227683763 - 227718028)

Ensembl ID

ENSG00000135917  (ver. 103.38)

Orthologs

Mouse Slc19a3: ENSMUSG00000038496

UniProt

Q9BZV2

neXtProt

NX_Q9BZV2

Human splice variants
Mouse splice variants

Protein structure