ACTN3: A genetic influence on muscle function and athletic performance.
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.
MacArthur
Daniel G
DG
Institute for Neuromuscular Research, Children's Hospital at Westmead, Westmead NSW, Australia.
North
Kathryn N
KN
D000185:Actinin / Q000235:genetics*; D006801:Humans; D009142:Musculoskeletal Physiological Phenomena; D010641:Phenotype; D010807:Physical Endurance / Q000235:genetics; D010809:Physical Fitness / Q000502:physiology*; D013177:Sports
C118456:ACTN3 protein, human; D000185:Actinin