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

Abstract：

:We report here the isolation, characterization, and chromosomal localization of the 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 abundant 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.

journal_name

Mol Genet Metab

journal_title

Molecular genetics and metabolism

authors

Eudy JD,Spiegelstein O,Barber RC,Wlodarczyk BJ,Talbot J,Finnell RH

doi

10.1006/mgme.2000.3112

subject

Has Abstract

pub_date

2000-12-01 00:00:00

pages

581-90

issue

4

eissn

1096-7192

issn

1096-7206

pii

S1096-7192(00)93112-3

journal_volume

71

pub_type

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