Full Name: Actinin Alpha 3
Genomic Location: Chromosome 11, between bases 66,546,395 and 66,563,334
Protein Size: 901 amino acids
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.
According to the human genome assembly there is a stop codon in position 577 which is only found in 18% of the world population.
- rs1815739 is linked to ACTN3, it is located within the coding region of the gene.
- Population frequencies are approximately 45% for the reference allele (T) and 55% for the alternate allele (C).
- Studies suggest the C allele is associated with power-based sports.