LongevityMap variant

Entry Details

Longevity Association
Significant
Population
American (Caucasian)
Study Design
Male (n= 4766) and female (n = 6202) divided into young (18-39 years) and old (60 years) groups were examined for polymorphisms
Conclusions
A polymorphism that results in an amino acid change from Ile to Val showed the strongest correlation with age. The Val variant was associated with a statistically significant decrease in the length of the electrocardiogram PR interval. An A to G polymorphism in the 3'UTR of D-AKAP2 showed a significant decrease of the G allele in the older sample of both genders. Additionally, the I646V polymorphism was found to be significantly different between young and old in both males and females.
Identifier
AKAP10
Cytogenetic Location
17p11.2
UCSC Genome Browser
View 17p11.2 on the UCSC genome browser

Gene details

HGNC symbol
AKAP10
Aliases
PRKA10; AKAP-10; D-AKAP2; D-AKAP-2 
Common name
A-kinase anchoring protein 10 
Description
This gene encodes a member of the A-kinase anchor protein family. A-kinase anchor proteins bind to the regulatory subunits of protein kinase A (PKA) and confine the holoenzyme to discrete locations within the cell. The encoded protein is localized to mitochondria and interacts with both the type I and type II regulatory subunits of PKA. Polymorphisms in this gene may be associated with increased risk of arrhythmias and sudden cardiac death. [provided by RefSeq, May 2012]
OMIM
604694
Ensembl
ENSG00000108599
UniProt/Swiss-Prot
A0A0S2Z4Z7_HUMAN
Entrez Gene
11216
UniGene
642676
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
rgs-5
Danio rerio
akap10
Drosophila melanogaster
pkaap
Mus musculus
Akap10
Rattus norvegicus
Akap10

References

Kammerer et al. (2003)

Other variants which are also part of this study