LongevityMap variant group
Entry Details
- Longevity Association
- Non-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
- Concerning H63D polymorphisms, no significant differences were observed, between old and young people. S65C was not detected.
Variants (2)
1.
- Identifier
- H63D
- In Other Studies (IDs)
- 416
- Cytogenetic Location
- 6p22.2
- UCSC Genome Browser
- View 6p22.2 on the UCSC genome browser
2.
- Identifier
- S65C
- In Other Studies (IDs)
- 419
- 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