Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mechanistic insights into mutation in the proton-coupled folate transporter (SLC46A1) causing hereditary folate malabsorption.

The Journal of biological chemistry - 1 Mar 2025

Nandigrami Prithviraj, Goldman I David, Fiser Andras

Abstract excerpt

Hereditary folate malabsorption (HFM) is a rare, autosomal recessive disorder characterized by impaired intestinal absorption and impaired transport of folates across the choroid plexus into cerebral spinal fluid due to inactivating mutations in the human proton-coupled folate transporter (hPCFT) gene, which encodes the proton-coupled folate transporter (PCFT) SLC46A1. Understanding the structural impact of these...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Folic Acid
Share to Folic Acid Deficiency

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Diseases, Inborn

Share to Malabsorption Syndromes

Share to Metabolism, Inborn Errors

Share to Molecular Dynamics Simulation

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 39924111
DOI: 10.1016/j.jbc.2025.108280
PMCID: PMC11929075

Genes

SLC46A1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mechanistic insights into mutation in the proton-coupled folate transporter (SLC46A1) causing hereditary folate malabsorption.PMID 39924111Read ↗

Random mutagenesis of the proton-coupled folate transporter (SLC46A1), clustering of mutations, and the bases for associated losses of function.Semantic proximity Read ↗

Hereditary folate malabsorption: a positively charged amino acid at position 113 of the proton-coupled folate transporter (PCFT/SLC46A1) is required for folic acid binding.Semantic proximity Read ↗

Identification of novel mutations in the proton-coupled folate transporter (PCFT-SLC46A1) associated with hereditary folate malabsorption.Semantic proximity Read ↗

Substituted-cysteine accessibility and cross-linking identify an exofacial cleft in the 7th and 8th helices of the proton-coupled folate transporter (SLC46A1).Semantic proximity Read ↗

A P425R mutation of the proton-coupled folate transporter causing hereditary folate malabsorption produces a highly selective alteration in folate binding.Semantic proximity Read ↗

Identification of a functionally critical GXXG motif and its relationship to the folate binding site of the proton-coupled folate transporter (PCFT-SLC46A1)Semantic proximity Read ↗

The human proton-coupled folate transporterSemantic proximity Read ↗

Substrate binding plasticity revealed by Cryo-EM structures of SLC26A2.Semantic proximity Read ↗

Computational Studies of the Dynamics of the Human Iron Exporter Ferroportin: Insight into the Role of Crucial Residues Involved in Pathogenic Mutations in the Transport MechanismSemantic proximity Read ↗

Molecular Simulations Meet Personalized Medicine. The Mechanism of Action of ClC-5 Antiporter and the Origin of Dent’s DiseaseSemantic proximity Read ↗

Mutation of the proton-coupled folate transporter gene (PCFT-SLC46A1) in Turkish siblings with hereditary folate malabsorption.Semantic proximity Read ↗

Role of the tryptophan residues in proton-coupled folate transporter (PCFT-SLC46A1) function.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.