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  • Human SLC46A1 wild-type allele is located in the vicinity of 17q11.2 and is approximately 13 kb in length. This allele, which encodes proton-coupled folate transporter protein, is involved in transport of both folate and antifolate across the plasma membrane, and heme transport in duodenal enterocytes. Mutations in this gene are associated with hereditary folate malabsorption.
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