Protein Überblick

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 (HFM) disease. HFM is characterized by folate deficiency due to reduced intestinal folate absorption and subsequent anemia, hypoimmunoglobulinemia, and recurrent infections. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.

Alternative names and synonyms associated with SLC46A1

• solute carrier family 46 member 1 (SLC46A1) Antikörper
• solute carrier family 46 (folate transporter), member 1 (slc46a1) Antikörper
• solute carrier family 46 member 1 (Slc46a1) Antikörper
• solute carrier family 46, member 1 (Slc46a1) Antikörper

• 1110002C08Rik Antikörper
• D11Ertd18e Antikörper
• G21 Antikörper
• HCP1 Antikörper
• Pcft Antikörper
• Alle Synonyme
• RGD1309472 Antikörper
• TRPE Antikörper

Bezeichner auf Proteinebene für SLC46A1

solute carrier family 46, member 1 , solute carrier family 46 (folate transporter), member 1 , proton-coupled folate transporter-like , heme carrier protein 1 , proton-coupled folate transporter , PCFT/HCP1 , retinal pigment epithelilum transporter , retinal pigment epithelium transporter , solute carrier family 46 member 1