SLC46A1, solute carrier family 46 member 1, 113235

N. diseases: 97; N. variants: 20
Disease: Folate Malabsorption, Hereditary ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		0.800 GeneticVariation disease BEFREE Hereditary folate malabsorption is a multisystem disease owing to biallelic variants in the gene encoding the proton-coupled folate transporter. 31371121 2020
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		0.800 Biomarker disease BEFREE A deep intronic mutation of c.1166-285 T > G in SLC46A1 is shared by four unrelated Japanese patients with hereditary folate malabsorption (HFM). 31494288 2019
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		0.800 GeneticVariation disease BEFREE Hereditary folate malabsorption (HFM) is an autosomal recessive disorder characterized by impaired intestinal folate absorption and impaired folate transport across the choroid plexus due to loss of function of the proton-coupled folate transporter (PCFT-SLC46A1). 29344585 2018
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		0.800 Biomarker disease BEFREE The proton-coupled folate transporter (PCFT-SLC46A1) and the syndrome of systemic and cerebral folate deficiency of infancy: Hereditary folate malabsorption. 27664775 2017
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		0.800 GeneticVariation disease BEFREE Hereditary folate malabsorption with a novel mutation on SLC46A1: A case report. 29390264 2017
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		0.800 Biomarker disease GENOMICS_ENGLAND Loss of PCFT function, as occurs in the autosomal recessive disorder "hereditary folate malabsorption" (HFM), results in a syndrome characterized by severe systemic and cerebral folate deficiency. 27664775 2017
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		0.800 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		0.800 GeneticVariation disease BEFREE On SLC46A1 gene, a novel mutation, c.1A>T (M1L), and a reported mutation c.194-195 insG (p.Cys66LeufsX99) were identified, supported the diagnosis of hereditary folate malabsorption. 24534056 2015
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		0.800 GeneticVariation disease BEFREE However, it was only recently that the proton-coupled folate transporter (PCFT) was identified and its critical role in folate transport across the apical brush-border membrane of the proximal small intestine established by the loss-of-function mutations identified in the PCFT gene in subjects with hereditary folate malabsorption and, more recently, by the Pcft-null mouse. 24512081 2014
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		0.800 GeneticVariation disease BEFREE A novel deletion mutation in the proton-coupled folate transporter (PCFT; SLC46A1) in a Nicaraguan child with hereditary folate malabsorption. 23816405 2013
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		0.800 GeneticVariation disease BEFREE A P425R mutation of the proton-coupled folate transporter causing hereditary folate malabsorption produces a highly selective alteration in folate binding. 22345511 2012
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		0.800 GeneticVariation disease BEFREE PCFT was identified in 2006 as the primary transporter for intestinal absorption of dietary folates, as mutations in PCFT are causal in hereditary folate malabsorption (HFM) syndrome. 22954694 2012
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		0.800 GeneticVariation disease BEFREE Functional roles of the A335 and G338 residues of the proton-coupled folate transporter (PCFT-SLC46A1) mutated in hereditary folate malabsorption. 22843796 2012
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		0.800 GeneticVariation disease BEFREE Identification of novel mutations in the proton-coupled folate transporter (PCFT-SLC46A1) associated with hereditary folate malabsorption. 21333572 2011
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		0.800 GeneticVariation disease UNIPROT In this report, novel mutations are described in three subjects with HFM: A335D/N68Kfs (c.1004C>A/c.204-205delCC), compound heterozygous mutations, and two homozygous PCFT mutations, G338R (c.1012G>C) and E9Gfs (c.17-18insC). 21333572 2011
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		0.800 GeneticVariation disease BEFREE Prevalence of a loss-of-function mutation in the proton-coupled folate transporter gene (PCFT-SLC46A1) causing hereditary folate malabsorption in Puerto Rico. 21489556 2011
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		0.800 Biomarker disease BEFREE In this report, we describe a new murine model of the hereditary folate malabsorption syndrome that we developed through targeted disruption of the first 3 coding exons of the murine homolog of the PCFT gene. 21346251 2011
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		0.800 GeneticVariation disease UNIPROT This report characterizes properties and requirements of the R376 residue in PCFT function, including a R376Q mutant associated with HFM. 20686069 2010
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		0.800 GeneticVariation disease BEFREE Mutation of the proton-coupled folate transporter gene (PCFT-SLC46A1) in Turkish siblings with hereditary folate malabsorption. 20795774 2010
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		0.800 GeneticVariation disease BEFREE Properties of the Arg376 residue of the proton-coupled folate transporter (PCFT-SLC46A1) and a glutamine mutant causing hereditary folate malabsorption. 20686069 2010
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		0.800 GeneticVariation disease BEFREE A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorption. 20005757 2010
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		0.800 GeneticVariation disease UNIPROT Functional roles of aspartate residues of the proton-coupled folate transporter (PCFT-SLC46A1); a D156Y mutation causing hereditary folate malabsorption. 20805364 2010
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		0.800 GeneticVariation disease BEFREE Functional roles of aspartate residues of the proton-coupled folate transporter (PCFT-SLC46A1); a D156Y mutation causing hereditary folate malabsorption. 20805364 2010
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		0.800 GeneticVariation disease BEFREE Hereditary folate malabsorption is a rare inborn error of metabolism due to mutations in the proton-coupled folate transporter (PCFT). 19740703 2009
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary 		0.800 GeneticVariation disease BEFREE PCFT is critical to intestinal folate absorption and transport into the central nervous system because there are loss-of-function mutations in this gene in the autosomal recessive disorder, hereditary folate malabsorption. 19074442 2009