alpha-actinin-3

ACTN3

A gene on chromosome 11q13-q14 that encodes an actin-binding bundling protein expressed only in skeletal muscle, which localises to the Z-disc and analogous dense bodies, where it helps to anchor the myofibrillar actin filaments.

alpha-actinin-3

ACTN3, a group of genes one of which, the R allele, codes for the fast-acting muscle protein actinin. The X allele does not produce this protein. Interestingly, 95 percent of champion sprinters have at least one copy of the R allele and 50 percent have two. In controls, 72 percent have one R allele and only 30 percent have two.
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References in periodicals archive ?
A common nonsense mutation results in alpha-actinin-3 deficiency in the general population.
Genetic studies relate 23 genes capable of influencing the resistance phenotype, of which the Olympic DNA project focuses on two specifically related to physical performance: the alpha-actinin-3 protein (ACTN3) and the angiotensin-converting enzyme (ACE).
More than 200 single nucleotide polymorphisms and genetic traits associated with fitness performance have been reported in numerous studies, but genes for angiotensin converting enzyme and alpha-actinin-3 are most frequently associated with enhanced physical performance.
ACTN3 produces the protein alpha-actinin-3, which is responsible for the fast-twitch muscle fibers that allow us to run.
[21] in a recent review discussed three biological pathways by which alpha-actinin-3 deficiency alters muscle function in favor of endurance performance while sacrificing muscle strength and/or power, a shift in the fast fiber properties towards those of slow fibers (structural) and accompanying higher activity of oxidative enzymes (metabolic) and higher baseline calcineurin activity (signaling).
(1999) A common nonsense mutation results in alpha-actinin-3 deficiency in the general population.
Alpha-actinin-3 (ACTN3) R577X polymorphism influences knee extensor peak power response to strength training in older men and women.
Australian researchers identified two versions of a gene called alpha-actinin-3,or ACTN3,New Scientist magazine reported.
Association between sport performance and alpha-actinin-3 gene 577X polymorphism.
(2008) A gene for speed: contractile properties of isolated whole EDL muscle from an alpha-actinin-3 knockout mouse.
The alpha-actinin-3 R577X polymorphism and physical performance in soccer players.
Carrying two copies of the X allele (XX) prevents any expression of the alpha-actinin-3 protein and, accordingly, XX homozygotes may experience a disadvantage in the speed sports.