ACTN3

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.
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References in periodicals archive ?
The DD genotype in ACE gene (absence or deletion of D in a 287-base-pair alu repeat within intron 16) and the XX genotype in ACTN3 gene (R577X polymorphism with a C to T conversion at position 1747 in exon 16) were significantly associated with an earlier age of disease onset.
Em 1999, North e colaboradores identificaram um polimorfismo do tipo nonsense no gene ACTN3 o qual consiste na troca de nucleotideo C[right arrow]T na posicao 1.
Abbreviations SNP - single nucleotide polymorphism ACE - angiotensin converting enzyme ACTN3 - alpha actinin 3 BRDKB2 - bradykinin receptor B2 GWAS - genome-wide association studies BASES - British Association of Sport and Exercise Sciences DNA - deoxyribonucleic acid
The ACTN3 XX Genotype's Underrepresentation in Japanese Elite Wrestlers.
Mutations in the gene ACTN3 are associated with the ability to run fast.
2011) Genetic variation of the human ACE and ACTN3 genes and their association with functional muscle properties in Lithuanian elite athletes.
Researchers already have developed and marketed a genetic test that identifies one variant of the ACTN3 gene in humans, called R577X, which codes for a protein called [alpha]-actinin-3.
ACTN3 R577X and other polymorphisms are not associated with elite endurance athlete status in the Genathlete study.
ACTN3 R577X polymorphism and neuromuscular response to resistance training.
Almost nine years ago, some Australian scientists had come up with a study that black sprinters have a gene called ACTN3 which is involved in fast muscle twitching.
Scientists have also found that there are certain natural variants of a gene called ACTN3 that can boost the performance of fast-twitch muscle fibres.