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References OMIM Gene GeneReviews HGMD HGNC
last update : 30-05-2018
Symbol ACTN3D
Location 11q13.2
Name alpha-actinin-3 deficiency
Corresponding gene ACTN3
Main clinical features
  • congenital deficiency of alpha-actinin-3 based on a common nonsense polymorphism in the ACTN3 gene
  • is not symptomatic, but alters muscle adaptation in response to denervation and immobilization, and is detrimental to optimal sprint performance and benefits endurance performance in elite athletes (PMID: 24234654))
  • results in increased calcineurin activity in skeletal muscle and enhanced adaptive response to endurance training (PMID: 24091322))
  • Genetic determination not applicable
    Prevalence 16p100 of the global population
    Function/system disorder neuromuscular
    Type disease