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Cell December 1, 2006; 127 (5): 917-28.
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Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption.

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

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.

PubMed ID: 17129779
Article link: Cell
Grant support: [+]

Species referenced: Xenopus
Genes referenced: prmt1

References :
Andrews, When is a heme transporter not a heme transporter? When it's a folate transporter. 2006, Pubmed