Products

Western Blot (Transfected lysate)

Entrez GeneID

GeneBank Accession#

Protein Accession#

Gene Name

SLC46A1

Gene Alias

HCP1, MGC9564, PCFT

Gene Description

solute carrier family 46 (folate transporter), member 1

Omim ID

Gene Ontology

Gene 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 transmembrane 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 cause the autosomal recessive hereditary folate malabsorption (HFM) disease. HFM is characterized by folate deficiency due to reduced intestinal folate absorption and subsequent anemia, hypoimmunoglobulinemia, and recurrent infections. [provided by RefSeq

Other Designations

heme carrier protein 1|proton-coupled folate transporter|solute carrier family 46, member 1