ACTN1
Actn1: The Gene That Influences Muscle Power and Athletic Performance
Description
Actn1 (alpha-actinin-3) is a gene that encodes a protein called alpha-actinin-3. This protein is found in skeletal muscle fibers, where it plays a crucial role in maintaining the integrity and contractile function of the muscle. Actn1 is responsible for anchoring actin filaments, the thin filaments that slide past the thick filaments (myosin) during muscle contraction.
Associated Diseases
Mutations in the Actn1 gene have been linked to several muscle-related disorders, including:
- Muscle weakness: Reduced levels or absence of alpha-actinin-3 can lead to muscle weakness, particularly in the upper limbs.
- Congenital fiber-type disproportion: This rare condition affects children and is characterized by a disproportionate number of slow-twitch muscle fibers, leading to muscle weakness and delayed motor development.
- Myopathy with exercise intolerance: Some mutations in Actn1 cause a type of myopathy characterized by muscle weakness and fatigue, especially during exercise.
Did you Know ?
Around 18% of the global population carries a variant of Actn1 that results in the absence of alpha-actinin-3 protein. This variant is more common in individuals of African descent.
