SLC19A3

GENE INFORMATION

? »

Gene name

SLC19A3 (HGNC Symbol)

Synonyms

THTR2

Description

Solute carrier family 19 (thiamine transporter), member 3 (HGNC Symbol)

Entrez gene 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 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]

Chromosome

2

Cytoband

q36.3

Chromosome location (bp)

227685210 - 227718012

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000135917 (version 78.38)

Entrez gene

80704

UniProt

Q9BZV2 (UniProt - Evidence at protein level)

neXtProt

NX_Q9BZV2

Antibodypedia

SLC19A3 antibodies
 

PROTEIN VIEW

? »
 
 
 
SLC19A3-001
 
SLC19A3-004
 
SLC19A3-006
 
SLC19A3-007
 
SLC19A3-008
 
 
 
 
 

PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

SLC19A3-001 ENSP00000258403
ENST00000258403
Q9BZV2
Show all »
Show » Show » 496 55.7 No >9
SLC19A3-004 ENSP00000387193
ENST00000409456
B8ZZ39
Show all »
Show » Show » 54 6.2 No 1
SLC19A3-006 ENSP00000399001
ENST00000456524
C9IZI1
Show all »
Show » Show » 132 15.2 No 4
SLC19A3-007 ENSP00000398349
ENST00000419059
C9J4J5
Show all »
Show » Show » 64 7.4 No 1
SLC19A3-008 ENSP00000386298
ENST00000409287
B8ZZW1
Show all »
Show » Show » 92 10.7 No 2