LongevityMap variant
Entry Details
- Longevity Association
- Significant
- Population
- Italian (Sicily)
- Study Design
- C282Y, H63D and S65C polymorphisms were studied in 106 young controls (age range from 22 to 55 years; 40 men and 66 women) and 35 elderly subjects (age range from 91 to 105 years; seven men and 28 women)
- Conclusions
- A significant difference 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.
- Identifier
- C282Y
- In Other Studies (IDs)
- 370 413
- Cytogenetic Location
- 6p22.2
- UCSC Genome Browser
- View 6p22.2 on the UCSC genome browser
Gene details
- 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