Medical

ACTN3

ACTN3

A gene on chromosome 11q13-q14 that encodes an actin-binding bundling protein expressed only in skeletal muscle, which localises to the Z-disc and analogous dense bodies, where it helps to anchor the myofibrillar actin filaments.
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References in periodicals archive
The found genes related to resistance are ADRB2, 79C/G, BDKBR2, CHRM2, EpoR, HBB, HIF-1 [alpha], GYS1, NOS3, NRF2, PPAR5, VEGF; the ones related to strength, muscle mass and power are ace, ACTN3, AMPD1, CK-MM, IGF1.
Kawauchi possesses a variant of the widely studied ACTN3 gene -- the so-called speed gene.
(144.) See Nan Yang et al., ACTN3 Genotype Is Associated with Human
Investigation of the Relationship Between a Genetic Polymorphism in ACTN3 and Elite Sport Performance Among Iranian Soccer Players.
De Filippi et al .[28] reported that polymorphisms of the angiotensin-converting enzyme (ACE) and alpha-actinin 3 (ACTN3) could modulate the clinical symptoms of Pompe patients.
Among the candidate genes studied, the gene encoding [alpha]-actinin-3 (ACTN3) has been shown to be promising in studies that have a focus on training responses (23).
Estudos geneticos relacionam 23 genes capazes de influenciar o fenotipo da resistencia, dos quais o projeto DNA Olimpico enfoca dois, especificamente relacionados a performance fisica: a proteina alfa-actinina-3 (ACTN3) e a enzima conversora de angiotensina (ACE).
Genetic associations of body composition, flexibility and injury risk with ACE, ACTN3 and COL5A1 polymorphisms in Korean ballerinas.
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