Human solute carrier family 46 (folate transporter) , member 1 ELISA Kit | SLC46A1 elisa kit
Human Proton-coupled folate transporter, SLC46A1 ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
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: Transporter, ion channel; Membrane protein, multi-pass; Membrane protein, integral; Transporter, iron; Transporter
Chromosomal Location of Human Ortholog: 17q11.2
Cellular Component: cell surface; brush border membrane; apical plasma membrane; cytoplasm; plasma membrane; integral to membrane
Molecular Function: folic acid transporter activity; methotrexate transporter activity; heme transporter activity; folic acid binding
Biological Process: heme transport; methotrexate transport; vitamin metabolic process; cellular iron ion homeostasis; folic acid metabolic process; transmembrane transport; water-soluble vitamin metabolic process; folic acid transport
Disease: Folate Malabsorption, Hereditary
Research Articles on SLC46A1
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Product Notes
The Human SLC46A1 slc46a1 (Catalog #AAA9316222) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9316222 ELISA Kit recognizes Human SLC46A1. It is sometimes possible for the material contained within the vial of "solute carrier family 46 (folate transporter) , member 1, ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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