LongevityMap variant

Entry Details

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.
Identifier
C282Y
In Other Studies (IDs)
81 413
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

Homologs in model organisms

Danio rerio
LOC556263
Mus musculus
Hfe
Rattus norvegicus
Hfe

References

Lio et al. (2002)

Other variants which are also part of this study