SLC19A3

SLC19A3
Identifiers
Aliases SLC19A3, BBGD, THMD2, THTR2, solute carrier family 19 member 3
External IDs OMIM: 606152 MGI: 1931307 HomoloGene: 23530 GeneCards: SLC19A3
Orthologs
Species Human Mouse
Entrez

80704

80721

Ensembl

ENSG00000135917

ENSMUSG00000038496

UniProt

Q9BZV2

Q99PL8

RefSeq (mRNA)

NM_025243

NM_030556

RefSeq (protein)

NP_079519.1

NP_085033.2

Location (UCSC) Chr 2: 227.69 – 227.72 Mb Chr 1: 83.01 – 83.04 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/Edit Mouse

Thiamine transporter 2 (ThTr-2), also known as solute carrier family 19 member 3, is a protein that in humans is encoded by the SLC19A3 gene.[3][4][5] SLC19A3 is a thiamine transporter.

Function

ThTr-2 is a ubiquitously expressed transmembrane thiamine transporter that lacks folate transport activity.[3]

It is specifically inhibited by chloroquine.[6]

Clinical significance

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.[3]

References

  1. ↑ "Human PubMed Reference:".
  2. ↑ "Mouse PubMed Reference:".
  3. 1 2 3 "Entrez Gene: solute carrier family 19".
  4. ↑ Eudy JD, Spiegelstein O, Barber RC, Wlodarczyk BJ, Talbot J, Finnell RH (December 2000). "Identification and characterization of the human and mouse SLC19A3 gene: a novel member of the reduced folate family of micronutrient transporter genes". Mol. Genet. Metab. 71 (4): 581–90. doi:10.1006/mgme.2000.3112. PMID 11136550.
  5. ↑ Zeng WQ, Al-Yamani E, Acierno JS, Slaugenhaupt S, Gillis T, MacDonald ME, Ozand PT, Gusella JF (July 2005). "Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3". Am. J. Hum. Genet. 77 (1): 16–26. doi:10.1086/431216. PMC 1226189Freely accessible. PMID 15871139.
  6. ↑ Huang Z, Srinivasan S, Zhang J, Chen K, Li Y, Li W, Quiocho FA, Pan X (2012). "Discovering thiamine transporters as targets of chloroquine using a novel functional genomics strategy". PLoS Genet. 8 (11): e1003083. doi:10.1371/journal.pgen.1003083. PMC 3510038Freely accessible. PMID 23209439.

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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