Rabbit anti-Human SLC46A1 Polyclonal Antibody

Uniprot Id

Q96NT5

Target Species

Human

Target Name

SLC46A1

Target Full Name

Proton-coupled folate transporter

Target Function

Proton-coupled high-affinity folate and heme transporter that plays an essential role in iron metabolism. Acts as the main importer of heme in the intestine. Imports also heme in the retina and retinal pigment epithelium, in neurons of the hippocampus, and in the renal epithelial cells. Participates therefore in the trafficking of heme and increases intracellular iron content. Mediates also intestinal absorption of folates and their transport from blood to cerebrospinal fluid across the choroid plexus.

Target Involvement

Hereditary folate malabsorption (HFM)

Target Subcellular Location

Apical cell membrane; Multi-pass membrane protein. Cytoplasm.

Target Protein Families

Major facilitator superfamily, SLC46A family

Target Tissue Specificity

Expressed in kidney, liver, placenta, small intestine, spleen, retina and retinal pigment epithelium. Lower levels found in colon and testis. Very low levels in brain, lung, stomach, heart and muscle. In intestine, expressed in duodenum with lower levels

Target Synonyms

G21; HCP 1; HCP1; Heme carrier protein 1; MGC9564; PCFT; PCFT/HCP1; PCFT_HUMAN; PDE7A; Proton coupled folate transporter; Proton-coupled folate transporter; SLC46A1; Solute carrier family 46 (folate transporter) member 1; Solute carrier family 46 member 1

Target Background

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.