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

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