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Hemochromatosis (HFE)

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HH; HFE1; HLA-H; High Fe; Hereditary hemochromatosis protein

Hemochromatosis (HFE)
CCC L130
HGNC 4886
MGI 109191
RGD 2793
UniProt Q30201
The HFE is located on short arm of chromosome 6 at location 6p21.3. Unusually, the official gene symbol is not an abbreviation of the official name. The protein encoded by this gene is a membrane protein that is similar to MHC class I-type proteins and associates with beta-2 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 hemochromatosis,(HHC) is an autosomal recessive genetic disorder that usually results from defects in this gene.The mutation or polymorphism most commonly associated with hemochromatosis is p.C282Y. About 1/200 of people of Northern European origin have two copies of this variant; they, particularly males are at high risk of developing hemochromatosis.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Hemochromatosis (HFE) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Hemochromatosis (HFE) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Hemochromatosis (HFE) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Hemochromatosis (HFE) CLIA Kit Customized Service Offer
n/a ELISA Kit for Hemochromatosis (HFE) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Hemochromatosis (HFE) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Hemochromatosis (HFE) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Hemochromatosis (HFE) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Hemochromatosis (HFE) CLIA Kit Customized Service Offer
n/a ELISA Kit for Hemochromatosis (HFE) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Hemochromatosis (HFE) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Hemochromatosis (HFE) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Hemochromatosis (HFE) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Hemochromatosis (HFE) CLIA Kit Customized Service Offer
n/a ELISA Kit for Hemochromatosis (HFE) ELISA Kit Customized Service Offer
  1. "A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis." Nat. Genet. 13:399-409(1996) [PubMed] [Europe PMC] [Abstract]
  2. "A 1.1-Mb transcript map of the hereditary hemochromatosis locus."Genome Res. 7:441-456(1997) [PubMed] [Europe PMC] [Abstract]
  3. "The haemochromatosis candidate gene HFE (HLA-H) of man and mouse is located in syntenic regions within the histone gene."J. Cell. Biochem. 69:117-126(1998) [PubMed] [Europe PMC] [Abstract]
  4. "Alternate splice variants of the hemochromatosis gene Hfe."Immunogenetics 49:357-359(1999) [PubMed] [Europe PMC] [Abstract]
  5. "The HFE gene undergoes alternate splicing processes."Blood Cells Mol. Dis. 26:155-162(2000) [PubMed] [Europe PMC] [Abstract]
  6. "Complete characterization of the 3' region of the human and mouse hereditary hemochromatosis HFE gene and detection of novel splicing forms."Blood Cells Mol. Dis. 27:35-43(2001) [PubMed] [Europe PMC] [Abstract]
  7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  8. "The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding."Proc. Natl. Acad. Sci. U.S.A. 95:1472-1477(1998) [PubMed] [Europe PMC] [Abstract]
  9. "Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels."Am. J. Hum. Genet. 84:60-65(2009) [PubMed] [Europe PMC] [Abstract]
  10. "Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor."Cell 93:111-123(1998) [PubMed] [Europe PMC] [Abstract]
  11. "A 3-dimensional model building by homology of the HFE protein: molecular consequences and application to antibody development."Biochim. Biophys. Acta 1481:213-221(2000) [PubMed] [Europe PMC] [Abstract]
  12. "Crystal structure of the hereditary haemochromatosis protein HFE complexed with transferrin receptor."Nature 403:46-53(2000) [PubMed] [Europe PMC] [Abstract]
  13. "An unappreciated role for RNA surveillance."Genome Biol. 5:R8.1-R8.16(2004) [PubMed] [Europe PMC] [Abstract]
  14. "Mutation analysis of the HLA-H gene in Italian hemochromatosis patients."Am. J. Hum. Genet. 60:828-832(1997) [PubMed] [Europe PMC] [Abstract]
  15. "Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda."Lancet 349:321-323(1997) [PubMed] [Europe PMC] [Abstract]
  16. "High prevalence of the His63Asp HFE mutation in Italian patients with porphyria cutanea tarda."Hepatology 27:181-184(1998) [PubMed] [Europe PMC] [Abstract]
  17. "Porphyria cutanea tarda, hepatitis C, and HFE gene mutations in North America."Hepatology 27:1661-1669(1998) [PubMed] [Europe PMC] [Abstract]
  18. "HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis."Blood 93:2502-2505(1999) [PubMed] [Europe PMC] [Abstract]
  19. "Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands."Blood Cells Mol. Dis. 25:147-155(1999) [PubMed] [Europe PMC] [Abstract]
  20. "Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria."Hum. Mol. Genet. 8:1517-1522(1999) [PubMed] [Europe PMC] [Abstract]
  21. "A retrospective anonymous pilot study in screening newborns for HFE mutations in Scandinavian populations."Hum. Mutat. 13:154-159(1999) [PubMed] [Europe PMC] [Abstract]
  22. "A novel missense mutation S65C in the HFE gene with a possible role in hereditary haemochromatosis."Hum. Mutat. 13:507-508(1999)
  23. "Two novel polymorphisms (E277K and V212V) in the haemochromatosis gene HFE."Hum. Mutat. 15:120-120(2000) [PubMed] [Europe PMC] [Abstract]
  24. "Co-inheritance of mutations in the uroporphyrinogen decarboxylase and hemochromatosis genes accelerates the onset of porphyria cutanea tarda."J. Invest. Dermatol. 115:868-874(2000) [PubMed] [Europe PMC] [Abstract]
  25. "Role of hemochromatosis C282Y and H63D mutations in HFE gene in development of type 2 diabetes and diabetic nephropathy."Diabetes Care 24:1187-1191(2001) [PubMed] [Europe PMC] [Abstract]
  26. "Idiopathic hemochromatosis with the mutation of Ala176Val heterozygous for HFE gene."Intern. Med. 40:479-483(2001) [PubMed] [Europe PMC] [Abstract]
  27. "Comprehensive hereditary hemochromatosis genotyping."Tissue Antigens 60:481-488(2002) [PubMed] [Europe PMC] [Abstract]
  28. "Phenotypic expression of the C282Y/Q283P compound heterozygosity in HFE and molecular modeling of the Q283P mutation effect."Blood Cells Mol. Dis. 30:231-237(2003) [PubMed] [Europe PMC] [Abstract]
  29. "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."Clin. Chem. 49:1981-1988(2003) [PubMed] [Europe PMC] [Abstract]
  30. "Heterozygous recipient and donor HFE mutations associated with a hereditary haemochromatosis phenotype after liver transplantation."Gut 52:433-435(2003) [PubMed] [Europe PMC] [Abstract]
  31. "Gene symbol: HFE. Disease: haemochromatosis."Hum. Genet. 114:405-405(2004) [PubMed] [Europe PMC] [Abstract]
  32. "The Q283P amino-acid change in HFE leads to structural and functional consequences similar to those described for the mutated 282Y HFE protein."Hum. Genet. 117:467-475(2005) [PubMed] [Europe PMC] [Abstract]
  33. "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."Hum. Mutat. 29:206-206(2008) [PubMed] [Europe PMC] [Abstract]