SLC46A1, Official Symbol SLC46A1provided by HGNC Official Full Name solute carrier family 46 member 1provided by HGNC Primary source HGNC:HGNC:30521 See related Ensembl:ENSG00000076351 MIM:611672; AllianceGenome:HGNC:30521 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as G21; HCP1; PCFT; hPCFT; HsPCFT Summary This gene encodes a transmembrane proton-coupled folate transporter protein that facilitates the movement of folate and antifolate substrates across cell membranes, optimally in acidic pH environments. This protein is also expressed in the brain and choroid plexus where it transports folates into the central nervous system. This protein further functions as a heme transporter in duodenal enterocytes, and potentially in other tissues like liver and kidney. Its localization to the apical membrane or cytoplasm of intestinal cells is modulated by dietary iron levels. Mutations in this gene are associated with autosomal recessive hereditary folate malabsorption disease. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2013] Expression Ubiquitous expression in duodenum (RPKM 45.1), small intestine (RPKM 21.0) and 22 other tissues See more Orthologs mouse all