Alpha-actinin-3, also known as alpha-actinin skeletal muscle isoform 3 or F-actin cross-linking protein, is a protein that in humans is encoded by the ACTN3 gene (named sprinter gene, speed gene or athlete gene) located on chromosome 11.

ACTN3 is a gene that encodes for alpha-actinin-3, a protein expressed only in type-II muscle fibers (North et al., 1999). A common polymorphism in this gene is R577X (rs1815739), where a C-to-T base substitution results in the transformation of an arginine base (R) to a …

2022年6月20日 · The ACTN3 gene controls fast-twitch muscle fibers, impacting power and endurance athletes. Check your genetic raw data.

2024年12月24日 · ACTN3 (Actinin Alpha 3) is a Protein Coding gene. Diseases associated with ACTN3 include Actn3 Deficiency and Bruxism. Among its related pathways are Sertoli-Sertoli Cell Junction Dynamics and Striated muscle contraction pathway. Gene Ontology (GO) annotations related to this gene include calcium ion binding and actin binding.

In humans, there are two genes encoding skeletal-muscle α-actinins: ACTN2 (MIM 102573), which is expressed in all fibers, and ACTN3 (MIM 102574), which is restricted to fast (type 2) fibers.

Several investigations have found that α-actinin-3 deficiency due to XX homozygosity in the ACTN3 R577X polymorphism can negatively affect sports performance through several structural, metabolic, or signaling changes.

2023年12月20日 · Understanding the role of the actn3 gene can provide valuable information for athletes, coaches, and researchers working to optimize athletic training and performance. The Actn3 gene, also known as the alpha-actinin-3 gene, …

ACTN3 is a gene that encodes α-Actinin-3, which is a protein that produces powerful contractions in glycolitic type II skeletal muscle fibres (MacArthur and North, 2004). There is a polymorphism in this gene (R577X) that induces a premature stop-codon (North et al., 1999).

2017年12月18日 · One of the most promising genes in that regard is ACTN3, which has commonly been referred to as "a gene for speed". Recent research has examined the influence of this gene on other performance phenotypes, including exercise adaptation, exercise recovery, and sporting injury risk.

Specifically, the ACTN3 RR genotype might favor the ability to generate powerful and forceful muscle contractions. Leading to an overall advantage of the RR genotype for enhanced performance in some speed and power-oriented sports.