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HFE (hemochromatosis) gene, Homo sapiens

Do you need expression-ready HFE gene to study the functions and characteristics? GenScript offers HFE gene in any custom vector for your molecular biology studies by ordering an HFE ORF clone.

About the HFE gene

HFE gene encodes 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 nine alternatively spliced variants have been described for this gene. Additional variants have been found but their full-length nature has not been determined. [provided by RefSeq, Jul 2008].

Genomic context of HFE gene

The human HFE gene is shown in the context of the human genome below. To see information about the HFE gene in other species, please use the Search tool to select your desired species. GenScript has in-stock ORF clones for mouse HFE, rat HFE, and human HFE, as well as on-demand HFE ORF clones in other 183 species.

Chromosome 6 - NC_000006.12

Genomic sequence of HFE gene

Learn more about HFE gene

HFE alternative names in variety species

[homo-sapiens] HH; HFE1; HLA-H; MVCD7; TFQTL2
[mus-musculus] MR2
[Macaca mulatta] EGK_14545

Bibliography

1.ERAD defects and the HFE-H63D variant are associated with increased risk of liver damages in Alpha 1-Antitrypsin Deficiency.
Joly P, et al. PLoS One, 2017. PMID 28617828, Free PMC Article

2.The hemochromatosis protein HFE 20 years later: An emerging role in antigen presentation and in the immune system.
Reuben A, et al. Immun Inflamm Dis, 2017 Sep. PMID 28474781, Free PMC Article

3.HFE Gene Mutations and Iron Status in 100 Healthy Polish Children.
Kaczorowska-Hac B, et al. J Pediatr Hematol Oncol, 2017 Jul. PMID 28406842, Free PMC Article

4.C282Y/H63D hemochromatosis mutations and microevolution: Speculations concerning the Basque population.
Bauduer F. Homo, 2017 Jan. PMID 28034447

5.Association of HFE gene mutations with nonalcoholic fatty liver disease in the Iranian population.
Saremi L, et al. Cell Mol Biol (Noisy-le-grand), 2016 Oct 31. PMID 27894410