LongevityMap Gene

Gene details

HGNC symbol
NDUFV2 
Aliases
CI-24k 
Common name
NADH:ubiquinone oxidoreductase core subunit V2 
Description
The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. This gene encodes the 24 kDa subunit of complex I, and is involved in electron transfer. Mutations in this gene are implicated in Parkinson's disease, bipolar disorder, schizophrenia, and have been found in one case of early onset hypertrophic cardiomyopathy and encephalopathy. A non-transcribed pseudogene of this locus is found on chromosome 19. [provided by RefSeq, Oct 2009]
Cytogenetic Location
18p11.22
UCSC Genome Browser
View 18p11.22 on the UCSC genome browser
OMIM
600532
Ensembl
ENSG00000178127
UniProt/Swiss-Prot
NDUV2_HUMAN
Entrez Gene
4729
UniGene
464572
1000 Genomes
1000 Genomes

Homologs in model organisms

Caenorhabditis elegans
F53F4.10
Danio rerio
ndufv2
Drosophila melanogaster
CG5703
Drosophila melanogaster
CG6485
Mus musculus
Ndufv2
Rattus norvegicus
Ndufv2
Schizosaccharomyces pombe
SPAC11E3.12

Studies (1)

Significant/Non-significant: 0/1

Longevity Association
Non-significant
Population
Danish
Study Design
38 genes (311 SNPs) belonging to pro-antioxidant pathways were investigated for the association with physical and cognitive performances in a Cohort of 1089 Danish nonagenarians. For each gene analyzed in the pro-antioxidant pathway, the influence on longitudinal survival was tested.
Conclusions
No gene found associated with a functional phenotype showed a corresponding association with survival in the whole cohort. NDUFS1, TXNRD1, SOD2 and UCP3 were found significantly associated with lifespan in the female cohort. No association with survival was reported in males for genes belonging to the pro-oxidant pathway here analyzed.
Indentifier
rs1039825
Reference