G
Genetic Archaeology
GENETIC ARCHAEOLOGY // PROFILE

ACTN3

Alpha-Actinin-3

CHR 11
11q13.2

Overview

ACTN3 encodes a structural protein exclusively found in fast-twitch (Type II) muscle fibers. The R577X variant is one of the most famous genetic variants in sports and determines whether you are more predisposed for sprint/power or endurance.

📍 Chromosomal Position

11q13.2 (Chromosome 11)

🧬 Gene Category

Fitness

🔬 Inheritance

Autosomal recessive

📊 Prevalence

XX: ~18%, RR: ~30%, RX: ~52%

Function & Significance

Alpha-actinin-3 is a structural protein that stabilizes the Z-discs in fast-twitch muscle fibers. These fibers are responsible for explosive movements such as sprinting and power development.

🏃 The “Sprinter Gene”

ACTN3 became famous as the “sprinter gene” because:

  • RR Genotype: More common among elite sprinters and power athletes
  • XX Genotype: More common among endurance athletes
  • RX Genotype: Balanced profile

About 1 billion people worldwide have the XX genotype and produce no functional ACTN3 protein!

🧬 Relevant SNPs

The R577X variant (rs1815739):

rs1815739
11:66560624
Allele 1

C

/

Allele 2

T

Significance: R577X Polymorphism

CC (RR): Functional ACTN3, optimal for sprint/power

TT (XX): No ACTN3, better for endurance

CT (RX): One functional copy, balanced

🏋️ Practical Significance

For Athletes:

  • RR Type: Focus on sprint, strength training, explosive movements
  • XX Type: Focus on endurance, marathon, cycling
  • RX Type: Versatile training potential, good all-round athletes

Important: Training and environment have a much greater influence than genetics! ACTN3 explains only a small part of athletic performance.

📚 Data Sources

The information on this page is based on the following scientific sources:

  • OMIM: #102574 – Online Mendelian Inheritance in Man
  • dbSNP: rs1815739 – SNP Database (NCBI)
  • ClinVar: Clinical Variant Database (NCBI)
  • PubMed: Sports Genetics Research
  • Sports Gene Database: Athletic Performance Genetics

Last Update: February 2026

Biological Function

Alpha-Actinin-3 is a structural protein in fast-twitch (Type II) muscle fibers. The X-allele leads to a complete loss of function, influencing muscle fiber type distribution.
Molecular Analysis

Analyzed Markers

rs1815739 Modifier
Pos: 11:66560624 | Alleles: C/T

R577X - CC(RR): Sprint/Power, TT(XX): Endurance, CT(RX): Balanced