Gene: HFE

Alternate names for this Gene: HFE1|HH|HLA-H|MVCD7|TFQTL2

Gene Summary: The protein encoded by this gene is a membrane protein that is similar to MHC class I-type proteins and associates with beta2-microglobulin (beta2M). It is thought that this protein functions to regulate iron absorption by regulating the interaction of the transferrin receptor with transferrin. The iron storage disorder, hereditary haemochromatosis, is a recessive genetic disorder that results from defects in this gene. At least nine alternatively spliced variants have been described for this gene. Additional variants have been found but their full-length nature has not been determined.

Gene is located in Chromosome: 6

Location in Chromosome : 6p22.2

Description of this Gene: homeostatic iron regulator

Type of Gene: protein-coding

Gene: LOC108783645

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

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rs2006736 in HFE;LOC108783645 gene and Arthritis, Gouty PMID 23263486 2013 Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.

rs61472021 in HFE;LOC108783645 gene and Child Development Disorders, Pervasive PMID 28540026 2017 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.

rs2006736 in HFE;LOC108783645 gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

rs2006736 in HFE;LOC108783645 gene and Gout PMID 23263486 2013 Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.

rs1800730 in HFE;LOC108783645 gene and HEMOCHROMATOSIS, TYPE 1 PMID 16880462 2006 Screening for hemochromatosis: recommendation statement.

PMID 10575540 1999 Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands.

PMID 12737937 2004 Phenotypic expression of the C282Y/Q283P compound heterozygosity in HFE and molecular modeling of the Q283P mutation effect.

PMID 9024376 1997 Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda.

PMID 15046077 2004 Gene symbol: HFE. Disease: Haemochromatosis.

PMID 9620340 1998 Porphyria cutanea tarda, hepatitis C, and HFE gene mutations in North America.

PMID 10194428 1999 HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis.

PMID 10401000 1999 Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria.

PMID 9106528 1997 Mutation analysis of the HLA-H gene in Italian hemochromatosis patients.

PMID 10094552 1999 A retrospective anonymous pilot study in screening newborns for HFE mutations in Scandinavian populations.

PMID 8696333 1996 A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis.

PMID 14633868 2003 Identification of new mutations of the HFE, hepcidin, and transferrin receptor 2 genes by denaturing HPLC analysis of individuals with biochemical indications of iron overload.

PMID 12584229 2003 Heterozygous recipient and donor HFE mutations associated with a hereditary haemochromatosis phenotype after liver transplantation.

PMID 11446670 2001 Idiopathic hemochromatosis with the mutation of Ala176Val heterozygous for HFE gene.

PMID 11423500 2001 Role of hemochromatosis C282Y and H63D mutations in HFE gene in development of type 2 diabetes and diabetic nephropathy.

PMID 18157833 2008 An unusual case of hemochromatosis due to a new compound heterozygosity in HFE (p.[Gly43Asp;His63Asp]+[Cys282Tyr]): structural implications with respect to binding with transferrin receptor 1.

PMID 12542741 2002 Comprehensive hereditary hemochromatosis genotyping.

PMID 15965644 2005 The Q283P amino-acid change in HFE leads to structural and functional consequences similar to those described for the mutated 282Y HFE protein.

PMID 10930379 2000 Two novel nonsense mutations of HFE gene in five unrelated italian patients with hemochromatosis.

rs2006736 in HFE;LOC108783645 gene and Red Blood Cell Count measurement PMID 19862010 2009 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

rs56275179 in HFE;LOC108783645 gene and Schizophrenia PMID 30285260 2019 Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect.

PMID 28540026 2017 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.