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

Abstract excerpt

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...

Topics

• HeLa Cells
• Humans
• Metabolism, Inborn Errors
• Mutagenesis
• Mutation
• Proton-Coupled Folate Transporter
• Structure-Activity Relationship