Identification and characterization of the human and mouse SLC19A3 gene: A novel member of the reduced folate family of micronutrient transporter genes

James D. Eudy, Ofer Spiegelstein, Robert C. Barber, Bogdan J. Wlodarczyk, Jeffrey Talbot, Richard H. Finnell

Research output: Contribution to journalArticle

98 Scopus citations

Abstract

We report here the isolation, characterization, and chromosomal localization of tbe genes encoding the human and corresponding murine orthologue of solute carrier family 19A member 3 (SLC19A3). Human SLC19A3 encodes a 496-amino-acid residue protein with a predicted molecular weight of 56 kDa that shares sequence similarity to both SLC19A1 (reduced folate transporter (RFC-1)) and SLC19A2 (high affinity thiamine transporter (THTR-1)). Like the SLC19A1 and SLC19A2 proteins, SLC19A3 contains 12 putative transmembrane domains. The human SLC19A3 gene is widely expressed, with the most ahundant expression observed in placenta, kidney, and liver, and has been mapped to chromosome 2q37. The murine SLC19A3 gene maps to central chromosome 1 in the region defined as a seizure susceptibility locus in the DBA/2J mouse strain. This article describes the identification of SLC19A3, a gene encoding a novel solute transporter, and establishes murine SLC19A3 as a candidate gene for seizures in the DBA/2J mouse.

Original languageEnglish (US)
Pages (from-to)581-590
Number of pages10
JournalMolecular Genetics and Metabolism
Volume71
Issue number4
DOIs
StatePublished - Jan 1 2000

Keywords

  • DBA/2J
  • Folate
  • Reduced folate carrier
  • SLC19A1
  • SLC19A2
  • SLC19A3
  • Seizure
  • Thiamine

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology

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