Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption.

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Qiu A, Jansen M, Sakaris A, Min SH, Chattopadhyay S, Tsai E, Sandoval C, Zhao R, Akabas MH, Goldman ID

Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption.

Cell. 2006 Dec 1;127(5):917-28.

PubMed ID

17129779 [ View in PubMed

]

Abstract

Folates are essential nutrients that are required for one-carbon biosynthetic and epigenetic processes. While folates are absorbed in the acidic milieu of the upper small intestine, the underlying absorption mechanism has not been defined. We now report the identification of a human proton-coupled, high-affinity folate transporter that recapitulates properties of folate transport and absorption in intestine and in various cell types at low pH. We demonstrate that a loss-of-function mutation in this gene is the molecular basis for hereditary folate malabsorption in a family with this disease. This transporter was previously reported to be a lower-affinity, pH-independent heme carrier protein, HCP1. However, the current study establishes that a major function of this gene product is proton-coupled folate transport required for folate homeostasis in man, and we have thus amended the name to PCFT/HCP1.

DrugBank Data that Cites this Article

Drug Transporters

Drug	Transporter	Kind	Organism	Pharmacological Action	Actions
Methotrexate	Folate transporter 1	Protein	Humans	Unknown	Substrate	Details

Polypeptides

Name	UniProt ID
Proton-coupled folate transporter	Q96NT5	Details