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

@article{Zhao2011RandomMO,
  title={Random mutagenesis of the proton-coupled folate transporter (SLC46A1), clustering of mutations, and the bases for associated losses of function.},
  author={Rongbao Zhao and Daniel Sanghoon Shin and Ndeye Khady Diop-Bove and Channa Gila Ovits and I. David Goldman},
  journal={The Journal of biological chemistry},
  year={2011},
  volume={286 27},
  pages={24150-8}
}
Loss-of-function mutations in the proton-coupled folate transporter (PCFT, SLC46A1) result in the autosomal recessive disorder, hereditary folate malabsorption (HFM). Identification and characterization of HFM mutations provide a wealth of information on the structure-function relationship of this transporter. In the current study, PCR-based random mutagenesis was employed to generate unbiased loss-of-function mutations of PCFT, simulating the spectrum of alterations that might occur in the… CONTINUE READING
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