LongevityMap variant

Entry Details

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.
Identifier
rs2374983
In Other Studies (IDs)
1398 1449
Cytogenetic Location
7q21.3
UCSC Genome Browser
View 7q21.3 on the UCSC genome browser

Gene details

HGNC symbol
PPP1R9A
Aliases
NRB1; NRBI; Neurabin-I 
Common name
protein phosphatase 1 regulatory subunit 9A 
Description
This gene is imprinted, and located in a cluster of imprinted genes on chromosome 7q12. This gene is transcribed in both neuronal and multiple embryonic tissues, and it is maternally expressed mainly in embryonic skeletal muscle tissues and biallelically expressed in other embryonic tissues. The protein encoded by this gene includes a PDZ domain and a sterile alpha motif (SAM). It is a regulatory subunit of protein phosphatase I, and controls actin cytoskeleton reorganization. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
Other longevity studies of this gene
5
OMIM
602468
Ensembl
ENSG00000158528
UniProt/Swiss-Prot
A4D1I0_HUMAN
Entrez Gene
55607
UniGene
21816
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
nab-1
Danio rerio
ppp1r9a
Drosophila melanogaster
Spn
Mus musculus
Ppp1r9a
Rattus norvegicus
Ppp1r9a

References

Dato et al. (2014)

Other variants which are also part of this study