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