LongevityMap variant

Entry Details

Longevity Association
Significant
Population
German
Study Design
329 healthy individuals were examined for 2576A-->G (D919G) polymorphism
Conclusions
Prevalence of the G-allele was significantly higher in the older than in the younger individuals. Separate analysis of female and male subjects revealed that the influence of the MTR genotype on male subjects became relevant at a younger age as opposed to female subjects suggesting a gender-dependent effect.
Identifier
D919G
Cytogenetic Location
1q43
UCSC Genome Browser
View 1q43 on the UCSC genome browser

Gene details

HGNC symbol
MTR
Aliases
MS; HMAG; cblG 
Common name
5-methyltetrahydrofolate-homocysteine methyltransferase 
Description
This gene encodes the 5-methyltetrahydrofolate-homocysteine methyltransferase. This enzyme, also known as cobalamin-dependent methionine synthase, catalyzes the final step in methionine biosynthesis. Mutations in MTR have been identified as the underlying cause of methylcobalamin deficiency complementation group G. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]
OMIM
156570
Ensembl
ENSG00000116984
UniProt/Swiss-Prot
METH_HUMAN
Entrez Gene
4548
UniGene
498187
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
nos-1
Danio rerio
uncharacterized_E7FB
Mus musculus
Mtr
Rattus norvegicus
Mtr

References

Linnebank et al. (2005)

Other variants which are also part of this study