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Article

ACTN3: A genetic influence on muscle function and athletic performance.

Exercise and sport sciences reviews - 1 Jan 2007

MacArthur Daniel G, North Kathryn N

Abstract excerpt

A common variant of the ACTN3 gene, R577X, results in complete deficiency of the alpha-actinin-3 protein in the fast skeletal muscle fibers of more than a billion humans worldwide. We review the evidence that this genetic variant is strongly associated with elite athlete status and with normal variation in human muscle strength and sprinting speed.

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Actinin
Cardiovascular Effects of Exercise
ACTN3 gene
Genetics and Physical Performance
Phenotype
Physical Endurance

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Physical Fitness

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Identifiers

PMID: 17211191
DOI: 10.1097/JES.0b013e31802d8874

Genes

ACTN3

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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Click a neighbor to travelStep 1 · 12 closest

ACTN3: A genetic influence on muscle function and athletic performance.PMID 17211191Read ↗

Is evolutionary loss our gain? The role of ACTN3 p.Arg577Ter (R577X) genotype in athletic performance, ageing, and diseaseSemantic proximity Read ↗

A Gene for Speed: The Emerging Role of α-Actinin-3 in Muscle MetabolismSemantic proximity Read ↗

Association of the ACTN3 Genotype with Muscle Function: A Systematic Review and Meta-analysis.Semantic proximity Read ↗

alpha-actinin-3 and performance.Semantic proximity Read ↗

The Effect of Heterozygosity for the ACTN3 Null Allele on Human Muscle Performance.Semantic proximity Read ↗

Genotype Distribution of the ACTN3 p.R577X Polymorphism in Elite Badminton Players: A Preliminary Study.Semantic proximity Read ↗

An Actn3 knockout mouse provides mechanistic insights into the association between -actinin-3 deficiency and human athletic performanceSemantic proximity Read ↗

Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans.Semantic proximity Read ↗

A gene for speed? The evolution and function of alpha-actinin-3.Semantic proximity Read ↗

ACTN3 R577X variant: could it be a determinant of sports performance in elite athletes in a Turkish population?Semantic proximity Read ↗

Genes for elite power and sprint performance: ACTN3 leads the way.Semantic proximity Read ↗

Simple Method to Genotype the ACTN3 r577x Polymorphism.Semantic proximity Read ↗

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