What is ACTN3 Gene?

Alpha-actinin 3 is gene in humans whose helps in formation of skeletal muscle.

The ACTN3 gene encodes instructions for making a specific muscle protein. The ACTN3 gene encodes a protein called α-actinin-3, which is found within the fast fibres of muscle – the cells that are required for generating rapid, forceful contraction in activities such as sprinting and weightlifting. The human ACTN3 gene comes in two forms in the general population: there’s a normal, functional version called 577R, and a "defective" version called 577X, which contains a single base change that prevents the production of α-actinin-3. People who have two copies of the 577X version produce absolutely no α-actinin-3 in their fast muscle fibres. But people with 577x gene single version (non mutant) have very stronger muscle powers found in elite athletes.


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