LongevityMap variant

Entry Details

Longevity Association
Non-significant
Population
English (Cambridge)
Study Design
The 677C/T SNP was examined in 182 women and 100 men aged > 84 years and in 100 boys and 100 girls younger than 17 years
Conclusions
MTHFR allele and genotype frequencies were similar in the elderly and young populations
Identifier
677C/T
In Other Studies (IDs)
363
Cytogenetic Location
1p36.22
UCSC Genome Browser
View 1p36.22 on the UCSC genome browser

Gene details

HGNC symbol
MTHFR
Aliases
 
Common name
methylenetetrahydrofolate reductase 
Description
The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency.[provided by RefSeq, Oct 2009]
Other longevity studies of this gene
16
OMIM
607093
Ensembl
ENSG00000177000
UniProt/Swiss-Prot
MTHR_HUMAN
Entrez Gene
4524
UniGene
214142
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
mthf-1
Danio rerio
mthfr
Drosophila melanogaster
CG7560
Mus musculus
Mthfr
Rattus norvegicus
Mthfr
Saccharomyces cerevisiae
MET13
Schizosaccharomyces pombe
met9

References

Galinsky et al. (1997)

Other variants which are also part of this study