LongevityMap Gene

Gene details

HGNC symbol
ACTN3 
Aliases
 
Common name
actinin alpha 3 (gene/pseudogene) 
Description
This gene encodes a member of the alpha-actin binding protein gene family. The encoded protein is primarily expressed in skeletal muscle and functions as a structural component of sarcomeric Z line. This protein is involved in crosslinking actin containing thin filaments. An allelic polymorphism in this gene results in both coding and non-coding variants; the reference genome represents the coding allele. The non-functional allele of this gene is associated with elite athlete status. [provided by RefSeq, Feb 2014]
Cytogenetic Location
11q13.2
UCSC Genome Browser
View 11q13.2 on the UCSC genome browser
OMIM
102574
Ensembl
ENSG00000248746
UniProt/Swiss-Prot
A0A087WSZ2_HUMAN
Entrez Gene
89
UniGene
654432
1000 Genomes
1000 Genomes

Homologs in model organisms

Caenorhabditis elegans
atn-1
Danio rerio
actn3b
Danio rerio
actn3a
Drosophila melanogaster
Actn
Mus musculus
Actn3
Rattus norvegicus
Actn3
Schizosaccharomyces pombe
ain1

Studies (1)

Significant/Non-significant: 0/1

Longevity Association
Non-significant
Population
Spanish
Study Design
The ACTN3 R577X polymorphism (rs1815739) was studied in 64 centenarians (age range: 100-108 years) and in 283 young healthy controls (21±2 years)
Conclusions
No differences between centenarians and controls were observed
Indentifier
rs1815739
Reference