Gene: SLC46A1
Alternate names for this Gene: G21|HCP1|PCFT
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 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.
Gene is located in Chromosome: 17
Location in Chromosome : 17q11.2
Description of this Gene: solute carrier family 46 member 1
Type of Gene: protein-coding
Gene: SARM1
Alternate names for this Gene: HsTIR|MyD88-5|SAMD2|SARM|hSARM1
Gene Summary:
Gene is located in Chromosome: 17
Location in Chromosome : 17q11.2
Description of this Gene: sterile alpha and TIR motif containing 1
Type of Gene: protein-coding
rs281875211 in
SLC46A1;SARM1 gene and
Folate Malabsorption, Hereditary
PMID 17446347 2007 The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption.
PMID 20805364 2010 Functional roles of aspartate residues of the proton-coupled folate transporter (PCFT-SLC46A1); a D156Y mutation causing hereditary folate malabsorption.
PMID 18559978 2008 A novel loss-of-function mutation in the proton-coupled folate transporter from a patient with hereditary folate malabsorption reveals that Arg 113 is crucial for function.
PMID 20686069 2010 This report characterizes properties and requirements of the R376 residue in PCFT function, including a R376Q mutant associated with HFM.
PMID 21333572 2011 Identification of novel mutations in the proton-coupled folate transporter (PCFT-SLC46A1) associated with hereditary folate malabsorption.
PMID 17129779 2006 Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption.
PMID 20686069 2010 Properties of the Arg376 residue of the proton-coupled folate transporter (PCFT-SLC46A1) and a glutamine mutant causing hereditary folate malabsorption.