SLC46A1 Antibody – Goat Polyclonal

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]

SLC46A1: 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. Defects in SLC46A1 are the cause of hereditary folate malabsorption (HFM). HFM is a rare autosomal recessive disorder characterized by impaired intestinal folate absorption with folate deficiency resulting in anemia, hypoimmunoglobulinemia with recurrent infections, and recurrent or chronic diarrhea. In many patients, neurological abnormalities such as seizures or mental retardation become apparent during early childhood, attributed to impaired transport of folates into the central nervous system. When diagnosed early, the disorder can be treated by administration of folate. If untreated, it can be fatal and, if treatment is delayed, the neurological defects can become permanent. Belongs to the major facilitator superfamily. SLC46A family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral; Membrane protein, multi-pass; Transporter; Transporter, iron; Transporter, ion channel

Chromosomal Location of Human Ortholog: 17q11.2

Cellular Component: cell surface; brush border membrane; cytoplasm; apical plasma membrane; integral to membrane; plasma membrane

Molecular Function: folic acid transporter activity; methotrexate transporter activity; heme transporter activity; folic acid binding

Biological Process: heme transport; vitamin metabolic process; methotrexate transport; cellular iron ion homeostasis; folic acid metabolic process; transmembrane transport; water-soluble vitamin metabolic process; folic acid transport

Disease: Folate Malabsorption, Hereditary