SLC46A1, solute carrier family 46 member 1, 113235

N. diseases: 97; N. variants: 20
Disease: Hemifacial microsomia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3495417
Disease: Hemifacial microsomia
Hemifacial microsomia 		0.100 GeneticVariation 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: C3495417
Disease: Hemifacial microsomia
Hemifacial microsomia 		0.100 GeneticVariation disease BEFREE A novel mutation in the SLC46A1 gene was identified, and HFM was diagnosed at 18 months of age. 29390264 2017
CUI: C3495417
Disease: Hemifacial microsomia
Hemifacial microsomia 		0.100 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: C3495417
Disease: Hemifacial microsomia
Hemifacial microsomia 		0.100 GeneticVariation disease BEFREE This paper characterizes the functional defect, and the roles of two mutated PCFT residues, associated with HFM (G338R and A335D). 22843796 2012
CUI: C3495417
Disease: Hemifacial microsomia
Hemifacial microsomia 		0.100 Biomarker disease BEFREE Proton-coupled folate transporter (PCFT) mediates folate intestinal absorption and transport across the choroid plexus, processes defective in subjects with hereditary folate malabsorption (HFM). 22345511 2012
CUI: C3495417
Disease: Hemifacial microsomia
Hemifacial microsomia 		0.100 GeneticVariation disease BEFREE Loss-of-function mutations in the proton-coupled folate transporter (PCFT, SLC46A1) result in the autosomal recessive disorder, hereditary folate malabsorption (HFM). 21602279 2011
CUI: C3495417
Disease: Hemifacial microsomia
Hemifacial microsomia 		0.100 GeneticVariation disease BEFREE These findings are consistent with a common mutation in the PCFT gene causing HFM that has disseminated to Puerto Ricans who have migrated to mainland United States. 21489556 2011
CUI: C3495417
Disease: Hemifacial microsomia
Hemifacial microsomia 		0.100 GeneticVariation disease BEFREE This report characterizes properties and requirements of the R376 residue in PCFT function, including a R376Q mutant associated with HFM. 20686069 2010
CUI: C3495417
Disease: Hemifacial microsomia
Hemifacial microsomia 		0.100 GeneticVariation disease BEFREE This report extends current knowledge on the phenotypic manifestations of HFM and the PCFT mutation spectrum. 20005757 2010
CUI: C3495417
Disease: Hemifacial microsomia
Hemifacial microsomia 		0.100 GeneticVariation disease BEFREE Extending current knowledge on the phenotypic manifestations of HFM and the PCFT mutation spectrum will provide opportunities to define possible genotype-phenotype correlations and clarify the basis for the phenotypic variability that is characteristic of this disorder. 20795774 2010
CUI: C3495417
Disease: Hemifacial microsomia
Hemifacial microsomia 		0.100 GeneticVariation disease BEFREE Some loss of folic acid (FA) transport mutations in PCFT from hereditary folate malabsorption (HFM) patients cluster in R113, thereby suggesting a functional role for this residue. 19508863 2009
CUI: C3495417
Disease: Hemifacial microsomia
Hemifacial microsomia 		0.100 GeneticVariation disease BEFREE These findings establish a novel loss of function mutation in HFM residing in an intracellular loop of PCFT crucial for folate transport. 18559978 2008
CUI: C3495417
Disease: Hemifacial microsomia
Hemifacial microsomia 		0.100 GeneticVariation disease BEFREE These findings further substantiate the role that mutations in PCFT play in the pathogenesis of HFM and will make possible rapid diagnosis and treatment of this disorder in infants, and prenatal diagnosis in families that carry a mutated gene. 17446347 2007