LongevityMap variant
- Longevity Association
- Significant
- Population
- Italian (Sicily)
- Study Design
- C282Y, H63D and S65C polymorphisms were studied in 106 young controls (22 - 55 years; 40 men) and 35 elderly subjects (91 - 105 years; 7 men)
- Conclusions
- A significant difference (P = 7.2 × 10−7 by Fisher exact test) was observed only in women in frequencies of C282Y alleles between the young and the elderly subjects. Concerning H63D polymorphisms, no significant differences were observed, between old and young people.
- HGNC symbol
- HFE
- Aliases
- HH; HFE1; HLA-H; MVCD7; TFQTL2
- Common name
- hemochromatosis
- Description
- 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 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]
- Other longevity studies of this gene
- 12
- OMIM
- 613609
- Ensembl
- ENSG00000010704
- UniProt/Swiss-Prot
- B4DV50_HUMAN
- Entrez Gene
- 3077
- UniGene
- 233325
- HapMap
- View on HapMap
Homologs in model organisms
- Mus musculus
- Hfe
- Rattus norvegicus
- Hfe
Lio et al. (2002)
Other variants which are also part of this study