Associated Papers
A Rare Combination of Hereditary Folate Malabsorption (SLC46A1 Gene Variant) and Beta-Thalassemia Trait.
Shekhawat DS et al.
Ejifcc, 2025
Functional role of serine 318 of the proton-coupled folate transporter in methotrexate transport.
Narawa T et al.
Drug Metabolism and Pharmacokinetics, 2021
A proton-coupled folate transporter mutation causing hereditary folate malabsorption locks the protein in an inward-open conformation.
Zhan HQ et al.
The Journal of Biological Chemistry, 2020
A deep intronic mutation of c.1166-285 T > G in SLC46A1 is shared by four unrelated Japanese patients with hereditary folate malabsorption (HFM).
Tozawa Y et al.
Clinical Immunology (orlando, Fla.), 2019
The proton-coupled folate transporter (PCFT-SLC46A1) and the syndrome of systemic and cerebral folate deficiency of infancy: Hereditary folate malabsorption.
Zhao R et al.
Molecular Aspects of Medicine, 2017
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix
Functional roles of the A335 and G338 residues of the proton-coupled folate transporter (PCFT-SLC46A1) mutated in hereditary folate malabsorption.
Shin DS et al.
American Journal of Physiology. Cell Physiology, 2012
Identification of a functionally critical GXXG motif and its relationship to the folate binding site of the proton-coupled folate transporter (PCFT-SLC46A1).
Zhao R et al.
American Journal of Physiology. Cell Physiology, 2012
A P425R mutation of the proton-coupled folate transporter causing hereditary folate malabsorption produces a highly selective alteration in folate binding.
Shin DS et al.
American Journal of Physiology. Cell Physiology, 2012
Prevalence of a loss-of-function mutation in the proton-coupled folate transporter gene (PCFT-SLC46A1) causing hereditary folate malabsorption in Puerto Rico.
Mahadeo KM et al.
The Journal of Pediatrics, 2011
Random mutagenesis of the proton-coupled folate transporter (SLC46A1), clustering of mutations, and the bases for associated losses of function.
Zhao R et al.
The Journal of Biological Chemistry, 2011
Identification of novel mutations in the proton-coupled folate transporter (PCFT-SLC46A1) associated with hereditary folate malabsorption.
Shin DS et al.
Molecular Genetics and Metabolism, 2011
Properties of the Arg376 residue of the proton-coupled folate transporter (PCFT-SLC46A1) and a glutamine mutant causing hereditary folate malabsorption.
Mahadeo K et al.
American Journal of Physiology. Cell Physiology, 2010
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