Aliases for SLC46A1 Gene
External Ids for SLC46A1 Gene
Previous GeneCards Identifiers for SLC46A1 Gene
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]
GeneCards Summary for SLC46A1 Gene
SLC46A1 (Solute Carrier Family 46 Member 1) is a Protein Coding gene. Diseases associated with SLC46A1 include Folate Malabsorption, Hereditary and Folic Acid Deficiency Anemia. Among its related pathways are Metabolism of water-soluble vitamins and cofactors and Vitamin digestion and absorption. GO annotations related to this gene include transmembrane transporter activity and heme transporter activity. An important paralog of this gene is SLC46A2.
UniProtKB/Swiss-Prot for SLC46A1 Gene
Has been shown to act both as an intestinal proton-coupled high-affinity folate transporter and as an intestinal heme transporter which mediates heme uptake from the gut lumen into duodenal epithelial cells. The iron is then released from heme and may be transported into the bloodstream. Dietary heme iron is an important nutritional source of iron. Shows a higher affinity for folate than heme.