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 ACTN3gene.
Alpha-actinin is an actin-binding protein with multiple roles in different cell types. This gene expression is limited to skeletal muscle. It is localized to the Z-disc and analogous dense bodies, where it helps to anchor the myofibrillar actin filaments.
Skeletal muscle is composed of long cylindrical cells called muscle fibers. There are two types of muscle fibers, slow twitch or muscle contraction (type I) and fast twitch (type II). Slow twitch fibers are more efficient in using oxygen to generate energy, while fast twitch fibers are less efficient. However, fast twitch fibers fire more rapidly, allowing them to generate more power than slow twitch (type I) fibers. Fast twitch fibers and slow twitch fibers are also called white muscle fibers and red muscles fibers, respectively.
An allele (rs1815739; R577X) has been identified in the ACTN3 gene which results in a deficiency of alpha-actinin 3 in a significant proportion of the population. The X homozygousgenotype is caused by a C to T transition in exon 16 of the ACTN3gene, which causes a transformation of an arginine base (R) to a premature stop codon (X) resulting in the rs1815739 mutation causing no production of the alpha-actinin 3 protein in muscle fibers. The 577XX polymorphism causes no production of alpha-actinin 3 protein which is essential in fast twitch muscle fibers.
It has been speculated that variations in this gene evolved to accommodate the energy expenditure requirements of people in various parts of the world.:155–156
There is an association between the ACTN3 R577X polymorphism in sprint and powerlifting performance at an elite level, and appears to be an association with exercise recovery and lower injury risk. It appears that the XX genotype is associated with higher levels of muscle damage and a longer time required for recovery.
^ abDavid Epstein. The Sports Gene: Inside the Science of Extraordinary Athletic Performance. ISBN9781101622636
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