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