LongevityMap variant

Entry Details

Longevity Association: Non-significant
Population: Ashkenazi Jewish (Jerusalem)
Study Design: C9T, Ala (GCT) to Val (GTT), SNP was examined in 224 older (75 years) Jewish Jerusalem residents of Ashkenazi ethnicity (150 males and 74 females) and a group of 441 younger subjects (22 years)
Conclusions: There was an increase in the percentage of T allele (51% versus 33.3%) in older Ashkenazi male subjects and a corresponding increase in the percentage (45.5% versus 25%) of TT homozygotes, though this was not significant after correcting for multiple testing

HGNC symbol: SOD2
Aliases: IPOB; IPO-B; MNSOD; MVCD6; Mn-SOD
Common name: superoxide dismutase 2
Description: This gene is a member of the iron/manganese superoxide dismutase family. It encodes a mitochondrial protein that forms a homotetramer and binds one manganese ion per subunit. This protein binds to the superoxide byproducts of oxidative phosphorylation and converts them to hydrogen peroxide and diatomic oxygen. Mutations in this gene have been associated with idiopathic cardiomyopathy (IDC), premature aging, sporadic motor neuron disease, and cancer. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 1. [provided by RefSeq, Apr 2016]
Other longevity studies of this gene: 21
OMIM: 147460
Ensembl: ENSG00000112096
UniProt/Swiss-Prot: A0A0C4DFU1_HUMAN
Entrez Gene: 6648
UniGene: 487046
HapMap: View on HapMap

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Stessman et al. (2005)