HFE (gene)

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Hemochromatosis
PDB rendering based on 1a6z.
Available structures: 1a6z, 1de4
Identifiers
Symbol(s) HFE; HH; HFE1; HLA-H; MGC103790; dJ221C16.10.1
External IDs OMIM: 235200 MGI: 109191 HomoloGene: 88330
RNA expression pattern

More reference expression data
Orthologs
Human Mouse
Entrez 3077 15216
Ensembl ENSG00000010704 ENSMUSG00000006611
Uniprot Q30201 Q5SZ88
Refseq NM_000410 (mRNA)
NP_000401 (protein)		 NM_010424 (mRNA)
NP_034554 (protein)
Location Chr 6: 26.2 - 26.21 Mb Chr 13: 23.71 - 23.72 Mb
Pubmed search [1] [2]

HFE gene (hemochromatosis) is a gene located on short arm of chromosome 6 at location 6p21.3.

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 eleven alternatively spliced variants have been described for this gene. Additional variants have been found but their full-length nature has not been determined.[1]

The gene has two mutant alleles at different loci, H63D and C282Y, which follow an autosomal recessive inheritance pattern and influence iron levels.

[edit] References

  1. ^ Entrez Gene: HFE hemochromatosis.

[edit] Further reading

  • Dorak MT, Burnett AK, Worwood M (2003). "Hemochromatosis gene in leukemia and lymphoma.". Leuk. Lymphoma 43 (3): 467–77. PMID 12002748. 
  • Beutler E (2003). "The HFE Cys282Tyr mutation as a necessary but not sufficient cause of clinical hereditary hemochromatosis.". Blood 101 (9): 3347–50. doi:10.1182/blood-2002-06-1747. PMID 12707220. 
  • Ombiga J, Adams LA, Tang K, et al. (2006). "Screening for HFE and iron overload.". Semin. Liver Dis. 25 (4): 402–10. doi:10.1055/s-2005-923312. PMID 16315134. 
  • Distante S (2006). "Genetic predisposition to iron overload: prevalence and phenotypic expression of hemochromatosis-associated HFE-C282Y gene mutation.". Scand. J. Clin. Lab. Invest. 66 (2): 83–100. doi:10.1080/00365510500495616. PMID 16537242. 
  • Zamboni P, Gemmati D (2007). "Clinical implications of gene polymorphisms in venous leg ulcer: a model in tissue injury and reparative process.". Thromb. Haemost. 98 (1): 131–7. PMID 17598005. 

[edit] External links

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Metabolism: Iron metabolism (including iron-binding proteins)
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