LongevityMap variant group

Entry Details

Longevity Association: Significant
Population: American
Study Design: A genome-wide linkage scan was performed for healthy aging in family study data, followed by fine-mapping by association in a separate population. A frailty index, called FI34, was introduced as a quantitative measure of healthy aging.
Conclusions: A single linkage peak was found on chromosome 12 in the genome-wide linkage scan. Fine-scale association mapping identified three sites associated with healthy aging in intergenic regions at 12q13-14.

HGNC symbol: METTL1
Aliases: TRM8; TRMT8; C12orf1; YDL201w
Common name: methyltransferase like 1
Description: This gene is similar in sequence to the S. cerevisiae YDL201w gene. The gene product contains a conserved S-adenosylmethionine-binding motif and is inactivated by phosphorylation. Alternative splice variants encoding different protein isoforms have been described for this gene. A pseudogene has been identified on chromosome X. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene: 1
OMIM: 604466
Ensembl: ENSG00000037897
UniProt/Swiss-Prot: TRMB_HUMAN
Entrez Gene: 4234
UniGene: 42957
HapMap: View on HapMap

HGNC symbol: TSFM
Aliases: EFTS; EFTSMT
Common name: Ts translation elongation factor, mitochondrial
Description: This gene encodes a mitochondrial translation elongation factor. The encoded protein is an enzyme that catalyzes the exchange of guanine nucleotides on the translation elongation factor Tu during the elongation step of mitchondrial protein translation. Mutations in this gene are associated with combined oxidative phosphorylation deficiency-3 syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010]
OMIM: 604723
Ensembl: ENSG00000123297
UniProt/Swiss-Prot: E5KS95_HUMAN
Entrez Gene: 10102
UniGene: 632704
HapMap: View on HapMap

Kim et al. (2015)