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Aliases & Descriptions for HFE
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases HFE 1 2 , 5 HH 2 HLA-H 1 , 2 , 3 , 5 HLAH 3 MGC103790 2 MVCD7 2 , 5 dJ221C16.10.1 2 hemochromatosis 2
Descriptions MHC class I-like protein HFE 2 hemochromatosis protein 2 hereditary hemochromatosis protein HLA-H 2 high Fe 2
Search outside databases for aliases for HFE genePrevious GC identifer: GC06P026130
Summaries for HFE (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for HFE : The protein encoded by this gene is a membrane protein that is similar to MHC class I-type proteinsand associates with beta2-microglobulin (beta2M). It is thought that this protein functions toregulate iron absorption by regulating the interaction of the transferrin receptor withtransferrin. The iron storage disorder, hereditary haemochromatosis, is a recessive geneticdisorder that results from defects in this gene. At least nine alternatively spliced variants havebeen described for this gene. Additional variants have been found but their full-length nature hasnot been determined. [provided by RefSeq] UniProtKB/Swiss-Prot: HFE_HUMAN, Q30201 Function : Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin
Gene Wiki entry for HFE
Genomic Location for HFE
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
SABiosciences )About This Section
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the HFE gene Entrez Gene cytogenetic band: 6p21.3 Ensembl cytogenetic band: 6p22.1 HGNC cytogenetic band: 6p21.3 HFE Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 6 GeneLoc Exon Structure
GeneLoc location for GC06P026195:
(about GC identifiers )
Start:
26,195,427 bp from pter
End:
26,205,038 bp from pter
Size:
9,612 bases
Orientation:
plus strand
RefSeq DNA sequence: NC_000006.10 NT_007592.14 Proteins for HFE
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: HFE_HUMAN, Q30201 (See
protein sequence )Recommended Name: Hereditary hemochromatosis protein precursor Size : 348 amino acids; 40108 Da
Subunit : Binds TFR through the extracellular domain in a pH-dependent manner
Subcellular location : Membrane; Single-pass type I membrane protein
PDB structures from and Proteopedia : 1A6Z (3D)
 1C42 (3D)
 1DE4 (3D)
 
Secondary accessions : O75929 O75930 O75931 Q17RT0 Q96KU5 Q96KU7 Q96KU8 Q9HC64 Q9HC68 Q9HC70 Q9HC83Alternative splicing : 10 isoforms : Q30201-1 Q30201-2 Q30201-3 Q30201-4 Q30201-5 Q30201-6 Q30201-7 Q30201-8 Q30201-9 Q30201-10 (Additional isoforms seem to exist)
REFSEQ proteins (9 alternative transcripts):
NP_000401.1 NP_620572.1 NP_620573.1 NP_620575.1 NP_620576.1 NP_620577.1 NP_620578.1 NP_620579.1 NP_620580.1 ENSEMBL proteins: ENSP00000313489 ENSP00000350238 ENSP00000259699 ENSP00000311698 ENSP00000313776 ENSP00000380217 ENSP00000312342 ENSP00000315936 ENSP00000337819 ENSP00000344033 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 4 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for HFE: Assays for HFE:
Protein
Domains/ Families for HFE(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry Q30201 ProtoNet protein and cluster: Q30201
2 Blocks protein families : IPB001039 MHC class I signature IPB003597 Immunoglobulin C-type UniProtKB/Swiss-Prot: HFE_HUMAN, Q30201 Similarity : Belongs to the MHC class I familySimilarity : Contains 1 Ig-like C1-type (immunoglobulin-like) domain
Gene Function for HFE
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
from Invitrogen ,
Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 11 ): NM_000410 Applied Biosystems Silencer ® siRNAs for HFE Sigma-Aldrich siRNA and siRNA Panels for HFE Sigma-Aldrich shRNA for HFE Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 9 ): NM_000410                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 9 ): NM_000410                                  untagged cDNA clones in CMV expression vector (see all 12 ): NM_000410  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000410 UniProtKB/Swiss-Prot: HFE_HUMAN, Q30201 Function : Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin
Genatlas biochemistry entry for HFE :HFE protein,defective in HH normally expressed in cryptal enterocytes of the duodenum and inplacenta,complexing with beta 2 microglobulin and transferrin receptor (TFR2),negative modulatorof the uptake of transferrin-bound iron from plasma
11 MGI mutant phenotypes (inferred from 8 alleles ) (MGI details for Hfe ) :1 Gene Ontology (GO) molecular function term (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0005506 iron ion binding
IEA --
About this table
Pathways & Interactions for HFE
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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Gene Network CentralTM Interacting Genes and Proteins Network for HFE 5/28 Interacting proteins for HFE (ENSP00000311698 3 ) via UniProtKB, MINT, and/or STRING (see all 28
)About this table 5/8 Gene Ontology (GO) biological process terms (links to tree view) (see all 8
):
About this table
Drugs & Compounds for HFE (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for HFE 10/25 Novoseek chemical compound relationships for HFE gene (see all 25
)
About this table
Transcripts for HFE(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
Abnova ,
siRNAs from Applied Biosystems ,
Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 11 ): NM_000410 Sigma-Aldrich siRNA and siRNA Panels for HFE Sigma-Aldrich shRNA for HFE Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_000410 NM_139003 NM_139004 NM_139006 NM_139007 NM_139008 NM_139009 NM_139010 NM_139011
REFSEQ mRNAs for HFE gene (9 alternative transcripts): NM_000410.3 NM_139003.2 NM_139004.2 NM_139006.2 NM_139007.2 NM_139008.2 NM_139009.2 NM_139010.2 NM_139011.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000410 NM_139003 NM_139004 NM_139006 NM_139007 NM_139008 NM_139009 NM_139010 NM_139011
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 9 ): NM_000410                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 9 ): NM_000410                                  untagged cDNA clones in CMV expression vector (see all 12 ): NM_000410  
Additional cDNA sequence: AF079407.1 AF079408.1 AF079409.1 AF115264.1 AF115265.1 AF144240.1 AF144242.1 AF149804.1 AJ249335.1 AJ249336.1 AJ249337.1 AJ249338.1 AJ250635.1 AJ298839.1 AJ298840.1 AJ404378.1 AK123489.1 AK293393.1 AK300933.1 AK316502.1 AY205604.1 BC074721.2 BC117201.1 BC117203.1 BC143887.1
10 DOTS entries : DT.100783479 DT.100783486 DT.95271885 DT.100783480 DT.100783483 DT.210913 DT.70104039 DT.87015035 DT.91987902 DT.91759729
24/69 AceView cDNA sequences (see all 69
):AF147392 AF109385 NM_139005 AJ249335 NM_139007 AY205604 AJ249336 AF079408 NM_139011 NM_139004 NM_139009 NM_000410 AF079409 AJ249337 AI955100 BX106516 AJ250635 NM_139010 CB529554 NM_139002 AF079407 AJ298839 AJ298840 AU279987
highest scoring ESTs for HFE :AI040303 AI122894 AI127651 AI763178 AJ404378 AW469921 BF445847 BF446089 R07647 R50398
Unigene Cluster for HFE: Hemochromatosis Hs.233325 [show with all ESTs ] Unigene Representative Sequence: NM_000410 GeneLoc Exon Structure 5/11 Alternative Splicing Database (ASD) splice patterns (SP) for HFE (see all 11
) ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b · 7c · 7d SP1 :                 -     -             SP2 :               -       -             SP3 :         -       -       -             SP4 :               -   -     -             SP5 :             -   -       -            
About this scheme ECgene alternative splicing isoforms for HFE 10 Ensembl transcripts including schematic representations : ENST00000317880
ENST00000357618
ENST00000349999
ENST00000309234
ENST00000317896
ENST00000397022
ENST00000353147
ENST00000352392
ENST00000336625
ENST00000345823
Expression for HFE
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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HFE expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for HFE 1 / 2 / 3
32 probe-sets matching HFE gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: --SOURCE GeneReport for Unigene cluster: Hs.233325 Expression variation in blood from EXPOLDB for HFE
UniProtKB/Swiss-Prot: HFE_HUMAN, Q30201 Tissue specificity : In all tissues tested except brain
Orthologs for HFE
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for HFE gene from 3 species
About this table Species with no ortholog for HFE ENSEMBL Gene Tree for HFE Paralogs for HFE (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for HFE gene ENSG00000204520 2 AZGP1P1 2 FCGRT 2 ENSG00000204516 2 AZGP1P2 2
SNPs/Variants for HFE (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for HFE (up to first 250kb)
Disorders & Mutations for HFE
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 235200 UniProtKB/Swiss-Prot: HFE_HUMAN, Q30201
Defects in HFE are a cause of hereditary hemochromatosis (HH) [MIM:235200]. HH is anautosomal recessive inborn disorder of iron metabolism. It is the most common recessive disease inCaucasians. HH is characterized by abnormal intestinal iron absorption and progressive increase oftotal body iron, which results in midlife in clinical complications including cirrhosis,cardiopathy, diabetes, endocrine dysfunctions, arthropathy, and susceptibility to liver cancer.Since the disease complications can be effectively prevented by regular phlebotomies, earlydiagnosis is most important to provide a normal life expectancy to the affected subjects Defects in HFE are a cause of porphyria variegata (PV) [MIM:176200]. Porphyrias areinherited defects in the biosynthesis of heme, resulting in the accumulation and increasedexcretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic,depending on whether the enzyme deficiency occurs in red blood cells or in the liver. PV is themost common form of porphyria in South Africa. It is characterized by skin hyperpigmentation andhypertrichosis, abdominal pain, tachycardia, hypertension and neuromuscular disturbances. Highfecal levels of protoporphyrin and coproporphyrin, increased urine uroporphyrins and iron overloadare typical markers of the disease Defects in HFE are associated with susceptibility to diabetic nephropathy [MIM:612635];also called susceptibility to microvascular complications of diabetes type 7 (MVCD7) orsusceptibility to diabetic proliferative retinopathy. Diabetic nephropathy is a kidney disease andresultant kidney function impairment due to the long standing effects of diabetes on themicrovasculature (glomerulus) of the kidney. Features include increased urine protein anddeclining kidney function
10/94 Novoseek disease relationships for HFE gene (see all 94
)
Disease
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
hereditary hemochromatosis
98.58
382
12547214 (4), 10349514 (3), 15280838 (3), 11358390 (3) (see all 99 )
hemochromatosis
98.21
496
11358388 (6), 12949720 (5), 10772870 (4), 10403350 (3) (see all 99 )
iron overload
97.49
348
12792703 (4), 9922318 (3), 10942923 (3), 11051367 (3) (see all 99 )
hemochromatosis, juvenile
90.65
8
17540536 (1), 12547233 (1), 17951290 (1), 15710580 (1) (see all 7 )
african iron overload
85.72
5
10989544 (1), 12382201 (1), 11722599 (1), 17335681 (1)
porphyria cutanea tarda
85.35
44
15280838 (5), 9551677 (5), 11427792 (3), 19001803 (2) (see all 24 )
hemochromatosis, type 3
80.19
2
17298224 (1), 11778658 (1)
iron disorder
78.51
2
11960574 (1), 11358390 (1)
hyperferritinemia-cataract syndrome
71.93
1
16900584 (1)
cirrhosis
71.23
35
17101320 (2), 11500061 (2), 12003382 (2), 12865278 (2) (see all 28 )
About this table Genatlas disease: HFE hemochromatosis,adult form,characterized by increased iron absorption of dietary iron leading toiron accumulation and cirrhosis of the liver,diabetes mellitus,skin pigmentation,cardiacarrhythmia and failure and arthropathy,excluding juvenile form,with increased risk of acutemyocardial infarction in carriers of the Cys282Tyr mutation GeneTests: HFE HFE-Associated Hereditary Hemochromatosis Human Gene Mutation Database : HFE Genetic Association Database: HFE Human Genome Epidemiology Navigator: HFE (482 documents)
Medical News for HFE (Possibly Related Articles in
Doctor's Guide )
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Publications for HFE (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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100/1047 PubMed articles for HFE gene (see all 1047
): Role of hemochromatosis C282Y and H63D mutations in HFE gene in development of type 2 diabetes and diabetic nephropathy. (PubMed id 11423500) 1, 3, 4, 6 Moczulski D.K....Gawlik B. (2001) Crystal structure of the hereditary haemochromatosis protein HFE complexed with transferrin receptor. (PubMed id 10638746) 1, 3, 4 Bennett M.J.... Bjorkman P.J. (2000) Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor. (PubMed id 9546397) 1, 3, 4 Lebron J.A.... Bjorkman P.J. (1998) The Q283P amino-acid change in HFE leads to structural and functional consequences similar to those described for the mutated 282Y HFE protein. (PubMed id 15965644) 1, 3, 4 Ka C.... Ferec C. (2005) Hemochromatosis gene mutations and distal adenomatous colorectal polyps. (PubMed id 15668490) 1, 3, 6 McGlynn K.A....Buetow K.H. (2005) [Association of mutations of HFE gene and hepatocellular carcinoma following chronic hepatitis B] (PubMed id 16174459) 1, 3, 6 Shi W.J....Cheng J. (2005) [HFE gene mutations, hepatic iron content, and histological severity in hepatitis C virus-induced chronic hepatitis] (PubMed id 14972004) 1, 3, 6 Ladero J.M....Diaz-Rubio M. (2003) Analysis of HFE and TFR2 mutations in selected blood donors with biochemical parameters of iron overload. (PubMed id 12681966) 1, 3, 6 De Gobbi M....Camaschella C. (2003) A 3-dimensional model building by homology of the HFE protein: molecular consequences and application to antibody development. (PubMed id 11018711) 1, 3, 4 Dupradeau F....Rochette J. (2000) Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands. (PubMed id 10575540) 1, 3, 4 Barton J.C.... Acton R.T. (1999) The haemochromatosis candidate gene HFE (HLA-H) of man and mouse is located in syntenic regions within the histone gene. (PubMed id 9548560) 1, 3, 4 Albig W.... Doenecke D. (1998) Porphyria cutanea tarda, hepatitis C, and HFE gene mutations in North America. (PubMed id 9620340) 1, 3, 4 Bonkovsky H.L....Lambrecht R.W. (1998) Relative contribution of iron burden, HFE mutations, and insulin resistance to fibrosis in nonalcoholic fatty liver. (PubMed id 14752836) 1, 3, 6 Bugianesi E....Rizzetto M. (2004) 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. (PubMed id 14633868) 1, 3, 4 Biasiotto G....Arosio P. (2003) A homozygous HFE gene splice site mutation (IVS5+1 G/A) in a hereditary hemochromatosis patient of Vietnamese origin. (PubMed id 11875012) 1, 3, 6 Steiner M....Schmidt H. (2002) Analysis of HFE and TFR2 gene mutations in patients with acute leukemia. (PubMed id 15863206) 1, 3, 6 Veneri D....Pizzolo G. (2005) HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype. (PubMed id 14670915) 1, 3, 6 Jacolot S.... Ferec C. (2004) Lack of association between HFE gene mutations and hepatocellular carcinoma in patients with cirrhosis. (PubMed id 12865278) 1, 3, 6 Boige V....Buffet C. (2003) A search for association between hereditary hemochromatosis HFE gene mutations and type 2 diabetes mellitus in a Polish population. (PubMed id 12601293) 1, 3, 6 Mal/ecki M.T....Sieradzki J. (2003) Mutations in the hemochromatosis gene (HFE ), Parkinson's disease and parkinsonism. (PubMed id 12902032) 1, 3, 6 Dekker M.C....van Duijn C.M. (2003) A population-based study of the effect of the HFE C282Y and H63D mutations on iron metabolism. (PubMed id 12673276) 1, 3, 6 Njajou O.T....van Duijn C.M. (2003) Idiopathic hemochromatosis with the mutation of Ala176Val heterozygous for HFE gene. (PubMed id 11446670) 1, 3, 4 Imanishi H.... Hada T. (2001) A 6-year survey of HFE gene test for hemochromatosis diagnosis. (PubMed id 15654232) 1, 3, 6 Mura C....Ferec C. (2005) [Mutations in the HFE gene in patients with rheumatic diseases] (PubMed id 16047841) 1, 3, 6 Putova I....Horak J. (2005) Prevalence of HFE and TFR2 gene mutation in 118 Ligurian rheumatic patients. (PubMed id 15785438) 1, 3, 6 Rovetta G....Franchin F. (2004) [Polymorphism of the HFE gene associated with hereditary hemochromatosis in populations of Russia] (PubMed id 12942784) 1, 3, 6 Mikhailova S.V....Voevoda M.I. (2003) Iron and HFE or TfR1 mutations as comorbid factors for development and progression of chronic hepatitis C. (PubMed id 12445428) 1, 3, 6 Bonkovsky H.L....Hsieh C.C. (2002) [Importance of 5569G/A polymorphism in intron 4 of HFE gene in the diagnosis of hereditary hemochromatosis] (PubMed id 11730630) 1, 3, 6 Roman R....Guix M. (2001) Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria. (PubMed id 10401000) 1, 3, 4 de Villiers J.N.P.... Kotze M.J. (1999) High prevalence of the His63Asp HFE mutation in Italian patients with porphyria cutanea tarda. (PubMed id 9425935) 1, 3, 4 Sampietro M.... Fargion S. (1998) Evidence for an association between compound heterozygosity for germ line mutations in the hemochromatosis (HFE ) gene and increased risk of colorectal cancer. (PubMed id 15941956) 3, 6 Robinson J.P....Silver A.R. (2005) Synergy between the C2 allele of transferrin and the C282Y allele of the haemochromatosis gene (HFE ) as risk factors for developing Alzheimer's disease. (PubMed id 15060098) 3, 6 Robson K.J....Smith A.D. (2004) Absence of hemochromatosis associated Cys282Tyr HFE gene mutation and low frequency of hemochromatosis phenotype in nonalcoholic chronic liver disease patients in India. (PubMed id 14675248) 3, 6 Thakur V....Sarin S.K. (2004) Heterozygosity for the Cys282Tyr mutation in the HFE gene and the risk of colorectal cancer (Netherlands). (PubMed id 12948285) 3, 6 van der A D.L....Peeters P.H. (2003) Haptoglobin type neither influences iron accumulation in normal subjects nor predicts clinical presentation in HFE C282Y haemochromatosis: phenotype and genotype analysis. (PubMed id 12846904) 3, 6 Carter K....Worwood M. (2003) Association between hemochromatosis (HFE ) gene mutation carrier status and the risk of colon cancer. (PubMed id 12529348) 3, 6 Shaheen N.J....Sandler R.S. (2003) Association between the MHC class I gene HFE polymorphisms and longevity: a study in Sicilian population. (PubMed id 11857056) 3, 6 Lio D....Caruso C. (2002) Hemochromatosis (HFE ) and transferrin receptor-1 (TFRC1) genes in sporadic porphyria cutanea tarda (sPCT). (PubMed id 11929045) 3, 6 Lamoril J....Puy H. (2002) [Mutations in the HFE gene (C282Y, H63D, S65C) in alcoholic patients with finding of iron overload] (PubMed id 12361551) 3, 6 Campos Franco J....Torre Carballada J.A. (2002) Genotyping of hemochromatosis-associated mutations in the HFE gene by PCR-RFLP and a novel reverse hybridization method. (PubMed id 11939483) 3, 6 Koeken A....van Doorn L.J. (2002) HFE mutations, hepatic iron, and fibrosis: ethnic-specific association of NASH with C282Y but not with fibrotic severity. (PubMed id 12085358) 3, 6 Chitturi S....George J. (2002) A prospective study of coronary heart disease and the hemochromatosis gene (HFE ) C282Y mutation: the Atherosclerosis Risk in Communities (ARIC) study. (PubMed id 11257277) 3, 6 Rasmussen M.L....Eckfeldt J.H. (2001) The HFE gene undergoes alternate splicing processes. (PubMed id 11001625) 3, 4 Thenie A.... Mosser J. (2000) Two novel polymorphisms (E277K and V212V) in the haemochromatosis gene HFE . (PubMed id 10612845) 3, 4 Bradbury R.... Payne S.J. (2000) A retrospective anonymous pilot study in screening newborns for HFE mutations in Scandinavian populations. (PubMed id 10094552) 3, 4 Merryweather-Clarke A.T.... Robson K.J.H. (1999) HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis. (PubMed id 10194428) 3, 4 Mura C.... Ferec C. (1999) Alternate splice variants of the hemochromatosis gene Hfe . (PubMed id 10079302) 3, 4 Rhodes D.A. and Trowsdale J. (1999) Mutational analysis of the transferrin receptor reveals overlapping HFE and transferrin binding sites. (PubMed id 11800564) 1, 3 West A.P. Jr.... Bjorkman P.J. (2001) Influence of HFE variants and cellular iron on monocyte chemoattractant protein-1. (PubMed id 19228389) 1, 3 Mitchell R.M....Connor J.R. (2009) HFE modulates transferrin receptor 2 levels in hepatoma cells via interactions that differ from transferrin receptor 1-HFE interactions. (PubMed id 17956864) 1, 3 Chen J....Enns C.A. (2007) Apical distribution of HFE -beta2-microglobulin is associated with inhibition of apical iron uptake in intestinal epithelia cells. (PubMed id 16841247) 1, 3 Arredondo M....Nunez M.T. (2006) The hereditary hemochromatosis protein, HFE , inhibits iron uptake via down-regulation of Zip14 in HepG2 cells. (PubMed id 18524764) 1, 3 Gao J....Enns C.A. (2008) The hereditary hemochromatosis protein HFE and its chaperone beta2-microglobulin localise predominantly to the endosomal-recycling compartment. (PubMed id 17543888) 1, 3 Bhatt L....McCaffrey M.W. (2007) Roles of iron and HFE mutations on severity and response to therapy during retreatment of advanced chronic hepatitis C. (PubMed id 17101320) 1, 3 Bonkovsky H.L....Morishima C. (2006) Changes in erythropoiesis in hereditary hemochromatosis are not mediated by HFE expression in nucleated red cells. (PubMed id 15710569) 1, 3 Feeney G.P....Worwood M. (2005) Mechanisms of HFE -induced regulation of iron homeostasis: Insights from the W81A HFE mutation. (PubMed id 12874382) 1, 3 Zhang A.S....Enns C.A. (2003) The haemochromatosis protein HFE induces an apparent iron-deficient phenotype in H1299 cells that is not corrected by co-expression of beta 2-microglobulin. (PubMed id 12464008) 1, 3 Wang J....Pantopoulos K. (2003) The hereditary hemochromatosis protein, HFE , specifically regulates transferrin-mediated iron uptake in HeLa cells. (PubMed id 10085150) 1, 3 Roy C.N....Enns C.A. (1999) Association of the transferrin receptor in human placenta with HFE , the protein defective in hereditary hemochromatosis. (PubMed id 9371823) 1, 3 Parkkila S....Sly W.S. (1997) Noncitrus fruits as novel dietary environmental modifiers of iron stores in people with or without HFE gene mutations. (PubMed id 18452683) 1, 3 Milward E.A....Olynyk J.K. (2008) Consequences of expressing mutants of the hemochromatosis gene (HFE ) into a human neuronal cell line lacking endogenous HFE . (PubMed id 17194693) 1, 3 Lee S.Y....Connor J.R. (2007) HIV-1 Nef down-regulates the hemochromatosis protein HFE , manipulating cellular iron homeostasis. (PubMed id 16043695) 1, 3 Drakesmith H....Xu X.N. (2005) Lack of evidence for the pathogenic role of iron and HFE gene mutations in Brazilian patients with nonalcoholic steatohepatitis. (PubMed id 12792703) 1, 3 Deguti M.M....Cancado E.L. (2003) Distribution of C282Y and H63D mutations in the HFE gene in healthy Asian Indians and patients with thalassaemia major. (PubMed id 14765621) 1, 3 Kaur G....Mehra N.K. (2003) Hepatitis C, iron status, and disease severity: relationship with HFE mutations. (PubMed id 12557137) 1, 3 Tung B.Y....Kowdley K.V. (2003) HFE mutations in an inflammatory arthritis population. (PubMed id 11886966) 1, 3 Willis G....Wimperis J.Z. (2002) Identification of an endogenous RNA transcribed from the antisense strand of the HFE gene. (PubMed id 11532995) 1, 3 Thenie A.C....Mosser J. (2001) Porphyria cutanea tarda, hepatitis C, uroporphyrinogen decarboxylase and mutations of HFE gene. A case-control study. (PubMed id 19001803) 1, 3 Cribier B....Chosidow O. (2009) HFE genotype influences erythropoiesis support requirement in hemodialysis patients: a prospective study. (PubMed id 18025780) 1, 3 Valenti L....Fargion S. (2008) Primary osteoarthritis in the ankle joint is associated with finger metacarpophalangeal osteoarthritis and the H63D mutation in the HFE gene: evidence for a hemochromatosis-like polyarticular osteoarthritis phenotype. (PubMed id 16755236) 1, 3 Carroll G.J. (2006) Prevalence of HFE (hemochromatosis) gene mutations in patients with cluster headache. (PubMed id 16178952) 1, 3 Rainero I....Pinessi L. (2005) Do cancer cells selectively mutate HFE to increase their intracellular iron? (PubMed id 16012706) 1, 3 Muller C.I....Koeffler H.P. (2005) HFE and transferrin directly compete for transferrin receptor in solution and at the cell surface. (PubMed id 15056661) 1, 3 Giannetti A.M. and Bjorkman P.J. (2004) Expression of the hereditary hemochromatosis protein HFE increases ferritin levels by inhibiting iron export in HT29 cells. (PubMed id 15044462) 1, 3 Davies P.S. and Enns C.A. (2004) Increased incidence of the Hfe mutation in amyotrophic lateral sclerosis and related cellular consequences. (PubMed id 15546588) 1, 3 Wang X.S....Connor J. (2004) Association of HFE mutations with neurodegeneration and oxidative stress in Alzheimer's disease and correlation with APOE. (PubMed id 12707938) 1, 3 Pulliam J.F....Markesbery W.R. (2003) Evidence for the interaction of the hereditary haemochromatosis protein, HFE , with the transferrin receptor in endocytic compartments. (PubMed id 12667138) 1, 3 Davies P.S....Enns C.A. (2003) Frequency of HFE gene mutations in Iranian beta-thalassaemia minor patients. (PubMed id 14703689) 1, 3 Jazayeri M....Zali M.R. (2003) The hemochromatosis protein HFE inhibits iron export from macrophages. (PubMed id 12429850) 1, 3 Drakesmith H....Townsend A.R. (2002) HFE mutations and transferrin receptor polymorphism analysis in porphyria cutanea tarda: a prospective study of 36 cases from southern France. (PubMed id 11260010) 1, 3 Dereure O....Guilhou J.J. (2001) Mutation analysis of the HFE gene in German hemochromatosis patients and controls using automated SSCP-based capillary electrophoresis and a new PCR-ELISA technique. (PubMed id 11686223) 1, 3 Hellerbrand C....Buttner R. (2001) Mutant HFE genotype leads to significant iron overload in patients with liver diseases from western Romania. (PubMed id 19433916) 1, 3 Neghina A.M....Thorstensen K. (2009) High prevalence of HFE gene mutations in hemodialysis patients. (PubMed id 18500222) 1, 3 Mennella G....Gessoni G. (2008) [The prevalence of peripheral iron overload and the presence of HFE gene (H63D) mutation among the Korean patients with nonalcoholic fatty liver disease] (PubMed id 17585191) 1, 3 Lee D....Lee D.H. (2007) The association between H63D mutations in HFE and amyotrophic lateral sclerosis in a Dutch population. (PubMed id 17210810) 1, 3 Sutedja N.A....Van den Berg L.H. (2007) HFE genotypes in decompensated alcoholic liver disease: phenotypic expression and comparison with heavy drinking and with normal controls. (PubMed id 16454835) 1, 3 Gleeson D....Dalton A. (2006) Nonalcoholic steatohepatitis in Asian Indians is neither associated with iron overload nor with HFE gene mutations. (PubMed id 15637751) 1, 3 Duseja A....Chawla Y. (2005) Effects of HFE gene mutations and alcohol on iron status, liver biochemistry and morbidity. (PubMed id 16105133) 1, 3 Olynyk J.K....Powell L.W. (2005) HFE gene mutations in susceptibility to childhood leukemia: HuGE review. (PubMed id 15775751) 1, 3 Dorak M.T....Worwood M. (2005) Prevalence of HFE mutations and relation to serum iron status in patients with chronic hepatitis C and patients with nonalcoholic fatty liver disease in Taiwan. (PubMed id 15991291) 1, 3 Lin T.J....Liao L.Y. (2005) Influence of HFE gene polymorphism on the progression and treatment of chronic hepatitis C. (PubMed id 14996353) 1, 3 Lebray P....Nalpas B. (2004) Prevalence of HFE mutations among the Thai population and correlation with iron loading in haemoglobin E disorder. (PubMed id 15182337) 1, 3 Viprakasit V....Tanphaichitr V.S. (2004) HFE mutations and chronic hepatitis C: H63D and C282Y heterozygosity are independent risk factors for liver fibrosis and cirrhosis. (PubMed id 12586300) 1, 3 Erhardt A....Haussinger D. (2003) Mixture distribution analysis of phenotypic markers reflecting HFE gene mutations. (PubMed id 12907432) 1, 3 McLaren C.E....Gordeuk V.R. (2003) Association between HFE mutations and acute myocardial infarction: a study in patients from Northern and Southern Italy. (PubMed id 12850485) 1, 3 Candore G....Caruso C. (2003) Human platelets express hemochromatosis protein (HFE ) and transferrin receptor 2. (PubMed id 12656741) 1, 3 Hannuksela J....Sly W.S. (2003) HFE mutations and hemochromatosis in Danish patients admitted for HFE genotyping. (PubMed id 12512743) 1, 3 Koefoed P....Nielsen F.C. (2002) Prevalence of coronary heart disease associated with HFE mutations in adults attending a health appraisal center. (PubMed id 12427496) 1, 3 Waalen J....Beutler E. (2002) Mutations in the HFE gene and their interaction with exogenous risk factors in hepatocellular carcinoma. (PubMed id 11500061) 1, 3 Fargion S....Fiorelli G. (2001) Comparison of the interactions of transferrin receptor and transferrin receptor 2 with transferrin and the hereditary hemochromatosis protein HFE . (PubMed id 11027676) 1, 3 West A.P....Bjorkman P.J. (2000)
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