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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Aug 2016.

Actinin, alpha 3

ACTN3, alpha-actinin-3
Alpha-actinin is an actin-binding protein with multiple roles in different cell types. This gene expression is limited to skeletal muscle. It is localized to the Z-disc and analogous dense bodies, where it helps to anchor the myofibrillar actin filaments [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: alpha-Actinin, HAD, FasT, MEN, fibrillin-1
Papers on ACTN3
Association of ACTN3 R577X but not ACE I/D gene variants with elite rugby union player status and playing position.
New
Williams et al., Cape Town, South Africa. In Physiol Genomics, Feb 2016
UNASSIGNED: We aimed to quantify the ACE I/D and ACTN3 R577X (rs1815739) genetic variants in elite rugby athletes (rugby union and league), compare genotype frequencies to controls and between playing positions.
Analysis of the ACTN3 Heterozygous Genotype Suggests That α-Actinin-3 Controls Sarcomeric Composition and Muscle Function in a Dose-Dependent Fashion.
New
North et al., Sydney, Australia. In Hum Mol Genet, Jan 2016
UNASSIGNED: A common null polymorphism (R577X) in ACTN3 causes α-actinin-3 deficiency in ∼18% of the global population.
The G allele of the IGF2 ApaI polymorphism is associated with judo status.
New
Machida et al., Japan. In J Strength Cond Res, Jan 2016
The purpose of this study was to investigate the association between the IGF2 ApaI and ACTN3 R577X polymorphisms and judo status.
ACE and ACTN3 genes polymorphisms among female Hungarian athletes in the aspect of sport disciplines.
New
Szmodis et al., Budapest, Hungary. In Acta Physiol Hung, Dec 2015
The aim of the study was to determine the importance of two sport-associated gene polymorphisms, alpha-actinin-3 R577X (ACTN3) and angiotensin-converting enzyme I/D (ACE), among Hungarian athletes in different sports.
Association of angiotensin-converting enzyme I/D and α-actinin-3 R577X genotypes with metabolic syndrome risk factors in Korean children.
New
Moon et al., Taegu, South Korea. In Obes Res Clin Pract, Nov 2015
OBJECTIVE: This study analysed the risk factors associated with metabolic syndrome through the interaction between ACTN3 and ACE gene polymorphism in Korean children.
The Effect of Heterozygosity for the ACTN3 Null Allele on Human Muscle Performance.
New
North et al., Melbourne, Australia. In Med Sci Sports Exerc, Nov 2015
Over 70% of the global population have at least one copy of a loss of function allele due to a premature stop-codon in the ACTN3 gene (R577X).
ACTN3 R577X genotype and athletic performance in a large cohort of Japanese athletes.
New
Fuku et al., Tokyo, Japan. In Ejss (champaign), Oct 2015
AIM: Recent meta-analyses of the literature confirmed the association between the RR+RX genotype of the ACTN3 R577X polymorphism and elite sprint/power athletic status in Europeans but not in Asians and Africans, while the association between the R577X genotype and elite endurance athlete status is less convincing.
Effective utilization of genetic information for athletes and coaches: focus on ACTN3 R577X polymorphism.
Review
New
Nakazato et al., Tokyo, Japan. In J Exerc Nutrition Biochem, Sep 2015
ACTN3 R577X is a well-studied genetic polymorphism.
Evaluation of a 7-Gene Genetic Profile for Athletic Endurance Phenotype in Ironman Championship Triathletes.
Griffiths et al., Gold Coast, Australia. In Plos One, 2014
To investigate this model's utility for elite triathletes, we genotyped seven polymorphisms previously associated with an endurance polygenic profile (ACE Ins/Del, ACTN3 Arg577Ter, AMPD1 Gln12Ter, CKMM 1170bp/985+185bp, HFE His63Asp, GDF8 Lys153Arg and PPARGC1A Gly482Ser) in a cohort of 196 elite athletes who participated in the 2008 Kona Ironman championship triathlon.
Current Progress in Sports Genomics.
Review
Fedotovskaya et al., Kazan', Russia. In Adv Clin Chem, 2014
Notably, 11 (9%) of these genetic markers (endurance markers: ACE I, ACTN3 577X, PPARA rs4253778 G, PPARGC1A Gly482; power/strength markers: ACE D, ACTN3 Arg577, AMPD1 Gln12, HIF1A 582Ser, MTHFR rs1801131 C, NOS3 rs2070744 T, PPARG 12Ala) have shown positive associations with athlete status in three or more studies, and six markers (CREM rs1531550 A, DMD rs939787 T, GALNT13 rs10196189 G, NFIA-AS1 rs1572312 C, RBFOX1 rs7191721 G, TSHR rs7144481 C) were identified after performing genome-wide association studies (GWAS) of African-American, Jamaican, Japanese, and Russian athletes.
Distribution of Angiotensin-1 Converting Enzyme Insertion/Deletion and α-Actinin-3 Codon 577 Polymorphisms in Turkish Male Soccer Players.
Biyikli et al., İstanbul, Turkey. In Genet Epigenet, 2014
Angiotensin-1 converting enzyme (ACE) gene and α-actinin-3 (ACTN3) gene polymorphisms are considered to be the most important candidate genes for genetic predisposition to human athletic performance.
Genetic aspects of athletic performance: the African runners phenomenon.
Review
de Lira et al., Vila Velha, Brazil. In Open Access J Sports Med, 2013
Based on this question, this brief review proposed the role of genetic factors (mitochondrial deoxyribonucleic acid, the Y chromosome, and the angiotensin-converting enzyme and the alpha-actinin-3 genes) in the amazing athletic performance observed in African runners, especially the Kenyans and Ethiopians, despite their environmental constraints.
Genetic influence on athletic performance.
Review
Roth et al., College Park, United States. In Curr Opin Pediatr, 2013
RECENT FINDINGS: Two gene variants, ACE I/D and ACTN3 R577X, have been consistently associated with endurance (ACE I/I) and power-related (ACTN3 R/R) performance, though neither can be considered predictive.
The genetics of sports injuries and athletic performance.
Review
Denaro et al., Salerno, Italy. In Muscles Ligaments Tendons J, 2012
The most studied include ACE and ACTN3 genes.
Genetic markers and explosive leg-muscle strength in elite Italian soccer players.
GeneRIF
Calò et al., Cagliari, Italy. In J Sports Med Phys Fitness, 2012
An interaction of two polymorphisms (ACE and ACTN-3) might be able to discriminate quantitative traits crucial for the elite soccer performance, however the contribution of genetic factors to soccer performance is not so high.
α-Actinin-2 deficiency results in sarcomeric defects in zebrafish that cannot be rescued by α-actinin-3 revealing functional differences between sarcomeric isoforms.
GeneRIF
Beggs et al., Boston, United States. In Faseb J, 2012
data provide functional evidence that the primary sequences of alpha-actinin-2 and alpha-actinin-3 evolved differences to optimize their functions
ACE I/D, ACTN3 R577X, PPARD T294C and PPARGC1A Gly482Ser polymorphisms and physical fitness in Taiwanese late adolescent girls.
GeneRIF
Hsieh et al., Taiwan. In J Physiol Sci, 2012
relationships between polymorphisms of the ACE, ACTN3, PPARD, and PPARGC1A genes and performance as measured by six fitness tests in sedentary adolescent girls
ACTN3 genotypes of Rugby Union players: distribution, power output and body composition.
GeneRIF
Cooper et al., Cardiff, United Kingdom. In Ann Hum Biol, 2012
Relationships between ACTN3 genotypes and power or body composition-related phenotypes were not significant.
ACTN3 R577X polymorphism and performance phenotypes in young Chinese male soldiers.
GeneRIF
Huang et al., Luoyang, China. In J Sports Sci, 2011
The results indicated that the ACTN3 R577X polymorphism is most strongly associated with grip strength in young Chinese male soldiers. A strong association between the ACTN3 R577X genotypes and sprint or endurance phenotypes was not observed.
Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans.
Impact
GeneRIF
North et al., Sydney, Australia. In Nat Genet, 2007
alpha-actinin-3 expression in a knockout mouse model results in a shift in muscle metabolism toward the more efficient aerobic pathway and an increase in intrinsic endurance performance
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