- HFE (gene)
HFE gene (
hemochromatosis ) is agene located on short arm ofchromosome 6 at location [http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?l235200 6p21.3] .PBB_Summary
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summary_text = 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. [cite web | title = Entrez Gene: HFE hemochromatosis| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3077| accessdate = ]The gene has two mutant alleles at different loci, H63D and C282Y, which follow an autosomal recessive inheritance pattern and influence iron levels.
References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Dorak MT, Burnett AK, Worwood M |title=Hemochromatosis gene in leukemia and lymphoma. |journal=Leuk. Lymphoma |volume=43 |issue= 3 |pages= 467–77 |year= 2003 |pmid= 12002748 |doi=
*cite journal | author=Beutler E |title=The HFE Cys282Tyr mutation as a necessary but not sufficient cause of clinical hereditary hemochromatosis. |journal=Blood |volume=101 |issue= 9 |pages= 3347–50 |year= 2003 |pmid= 12707220 |doi= 10.1182/blood-2002-06-1747
*cite journal | author=Ombiga J, Adams LA, Tang K, "et al." |title=Screening for HFE and iron overload. |journal=Semin. Liver Dis. |volume=25 |issue= 4 |pages= 402–10 |year= 2006 |pmid= 16315134 |doi= 10.1055/s-2005-923312
*cite journal | author=Distante S |title=Genetic predisposition to iron overload: prevalence and phenotypic expression of hemochromatosis-associated HFE-C282Y gene mutation. |journal=Scand. J. Clin. Lab. Invest. |volume=66 |issue= 2 |pages= 83–100 |year= 2006 |pmid= 16537242 |doi= 10.1080/00365510500495616
*cite journal | author=Zamboni P, Gemmati D |title=Clinical implications of gene polymorphisms in venous leg ulcer: a model in tissue injury and reparative process. |journal=Thromb. Haemost. |volume=98 |issue= 1 |pages= 131–7 |year= 2007 |pmid= 17598005 |doi=External links
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PBB_Controls
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