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 |
Folate Malabsorption, Hereditary
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
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 |
Folate Malabsorption, Hereditary
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
These findings establish a novel loss of function mutation in HFM residing in an intracellular loop of PCFT crucial for folate transport.
|
18559978 |
2008 |
Folate Malabsorption, Hereditary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption.
|
17446347 |
2007 |
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 |
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 |
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 |
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 |
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 |
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 |
Folate Malabsorption, Hereditary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The clinical course and genetic defect in the PCFT gene in a 27-year-old woman with hereditary folate malabsorption.
|
18718264 |
2008 |
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 |
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 |
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 |
Folate Malabsorption, Hereditary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorption.
|
20005757 |
2010 |
Folate Malabsorption, Hereditary
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption.
|
17129779 |
2006 |
Folate Malabsorption, Hereditary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Hereditary folate malabsorption with a novel mutation on SLC46A1: A case report.
|
29390264 |
2017 |
Folate Malabsorption, Hereditary
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Folate Malabsorption, Hereditary
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
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 |
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 |
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 |
Folate Malabsorption, Hereditary
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
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 |
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 |