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GENATLAS PHENOTYPE

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

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