ACTN3

Summary

Gene Symbol: ACTN3
Description: actinin alpha 3 (gene/pseudogene)
Alias: ACTN3D, alpha-actinin-3, F-actin cross-linking protein, actinin, alpha 3, alpha-actinin skeletal muscle
Species: human
Products:     ACTN3

Top Publications

  1. Paparini A, Ripani M, Giordano G, Santoni D, Pigozzi F, Romano Spica V. ACTN3 genotyping by real-time PCR in the Italian population and athletes. Med Sci Sports Exerc. 2007;39:810-5 pubmed
    Development of two novel sets of primers and probes to detect R577X and Q523R polymorphisms of the alpha-actinin-3 (ACTN3) gene by real-time PCR...
  2. Santiago C, Gonzalez Freire M, Serratosa L, Morate F, Meyer T, Gomez Gallego F, et al. ACTN3 genotype in professional soccer players. Br J Sports Med. 2008;42:71-3 pubmed
    The authors studied the frequency distribution of alpha-actinin-3 (ACTN3) R577X genotypes in 60 top-level professional soccer players. The results were compared with those of 52 elite endurance athletes and 123 sedentary controls...
  3. Quinlan K, Seto J, Turner N, Vandebrouck A, Floetenmeyer M, MacArthur D, et al. Alpha-actinin-3 deficiency results in reduced glycogen phosphorylase activity and altered calcium handling in skeletal muscle. Hum Mol Genet. 2010;19:1335-46 pubmed publisher
    Approximately one billion people worldwide are homozygous for a stop codon polymorphism in the ACTN3 gene (R577X) which results in complete deficiency of the fast fibre muscle protein alpha-actinin-3...
  4. Lima R, Leite T, Pereira R, Rabelo H, Roth S, Oliveira R. ACE and ACTN3 genotypes in older women: muscular phenotypes. Int J Sports Med. 2011;32:66-72 pubmed publisher
    This study examined the association between ACE I/D and ACTN3 R577X polymorphisms and muscle-related phenotypes and their adaptation to resistance training in older women. Volunteers (n=246;age=66.7 ± 5...
  5. Ginevičienė V, Pranculis A, Jakaitienė A, Milašius K, Kucinskas V. Genetic variation of the human ACE and ACTN3 genes and their association with functional muscle properties in Lithuanian elite athletes. Medicina (Kaunas). 2011;47:284-90 pubmed
    Based on the results of many studies, the angiotensin-converting enzyme (ACE) and the ?-actinin-3 (ACTN3) genes are considered strong candidate genes associated with human physical performance...
  6. Delmonico M, Zmuda J, Taylor B, Cauley J, Harris T, Manini T, et al. Association of the ACTN3 genotype and physical functioning with age in older adults. J Gerontol A Biol Sci Med Sci. 2008;63:1227-34 pubmed
    The purpose of this study was to examine the association of the alpha-actinin-3 (ACTN3) R577X polymorphism on muscle function and physical performance in older adults...
  7. Muniesa C, Gonzalez Freire M, Santiago C, Lao J, Buxens A, Rubio J, et al. World-class performance in lightweight rowing: is it genetically influenced? A comparison with cyclists, runners and non-athletes. Br J Sports Med. 2010;44:898-901 pubmed publisher
    ..this study, genotype frequencies of several polymorphisms that are candidates to influence sports performance (ie, ACTN3 R577X, ACE ID, PPARGC1A Gly482Ser, AMPD1 C34T, CKMM 985bp/1170bp and GDF8 (myostatin) K153R) were compared in 123 ..
  8. Rodríguez Romo G, Ruiz J, Santiago C, Fiuza Luces C, Gonzalez Freire M, Gomez Gallego F, et al. Does the ACE I/D polymorphism, alone or in combination with the ACTN3 R577X polymorphism, influence muscle power phenotypes in young, non-athletic adults?. Eur J Appl Physiol. 2010;110:1099-106 pubmed publisher
    ..enzyme gene (ACE) insertion/deletion (I/D) polymorphism, alone or in combination with the ?-actinin-3 gene (ACTN3) R577X polymorphism, with jumping (vertical squat and counter-movement jump tests) and sprint ability (30 m dash) ..
  9. Niemi A, Majamaa K. Mitochondrial DNA and ACTN3 genotypes in Finnish elite endurance and sprint athletes. Eur J Hum Genet. 2005;13:965-9 pubmed
    Differences in ACTN3 (alpha-actinin 3) genotypes have been reported among endurance and power athletes...

More Information

Publications69

  1. Massidda M, Vona G, Calò C. Association between the ACTN3 R577X polymorphism and artistic gymnastic performance in Italy. Genet Test Mol Biomarkers. 2009;13:377-80 pubmed publisher
    The ACTN3 (R577X) gene encodes for a structural protein that is exclusively expressed in the Z-disc of type II muscle fibers. Homozygosis (577XX) for the stop codon in the ACTN3 polymorphism results in alpha-actinin-3 complete deficiency...
  2. Lucia A, Gomez Gallego F, Santiago C, Perez M, Maté Muñoz J, Chamorro Viña C, et al. The 577X allele of the ACTN3 gene is associated with improved exercise capacity in women with McArdle's disease. Neuromuscul Disord. 2007;17:603-10 pubmed
    We assessed the possible association existing between alpha-actinin-3 (ACTN3) R577X genotypes and the capacity for performing aerobic exercise in McArdle's patients...
  3. Santiago C, Rodríguez Romo G, Gomez Gallego F, Gonzalez Freire M, Yvert T, Verde Z, et al. Is there an association between ACTN3 R577X polymorphism and muscle power phenotypes in young, non-athletic adults?. Scand J Med Sci Sports. 2010;20:771-8 pubmed publisher
    We investigated the association between ACTN3 R577X polymorphism and jumping (vertical squat and counter-movement jump tests) and sprint ability (30?m dash) in non-athletic, healthy young adults [N=284 (217 male), mean (SD) age: 21 (2) ..
  4. Ahmetov I, Druzhevskaya A, Astratenkova I, Popov D, Vinogradova O, Rogozkin V. The ACTN3 R577X polymorphism in Russian endurance athletes. Br J Sports Med. 2010;44:649-52 pubmed publisher
    The functional 577R allele of the alpha-actinin-3 (ACTN3) gene has been reported to be associated with elite power athlete status, while the nonfunctional 577XX genotype (predicts an alpha-actinin-3 deficient phenotype) has been ..
  5. Yang N, MacArthur D, Wolde B, Onywera V, Boit M, Lau S, et al. The ACTN3 R577X polymorphism in East and West African athletes. Med Sci Sports Exerc. 2007;39:1985-8 pubmed
    To determine the frequency of the ACTN3 R577X polymorphism (functional R allele and nonfunctional X allele) in a variety of African populations and to examine its influence on the success of elite East African endurance runners and West ..
  6. Rubio J, Gomez Gallego F, Santiago C, Garcia Consuegra I, Perez M, Barriopedro M, et al. Genotype modulators of clinical severity in McArdle disease. Neurosci Lett. 2007;422:217-22 pubmed
    ..severity of the disease, and each of the genotypes PYGM (R50X), ACE (I/D), AMPD1 (Q12X), PPARGC1A (G482S) and ACTN3 (R577X)...
  7. Scott R, Irving R, Irwin L, Morrison E, Charlton V, Austin K, et al. ACTN3 and ACE genotypes in elite Jamaican and US sprinters. Med Sci Sports Exerc. 2010;42:107-12 pubmed publisher
    The angiotensin-converting enzyme (ACE) and the alpha-actinin-3 (ACTN3) genes are two of the most studied "performance genes" and both have been associated with sprint/power phenotypes and elite performance...
  8. Bustamante Ara N, Santiago C, Verde Z, Yvert T, Gomez Gallego F, Rodríguez Romo G, et al. ACE and ACTN3 genes and muscle phenotypes in nonagenarians. Int J Sports Med. 2010;31:221-4 pubmed publisher
    We studied the association of ACE and ACTN3 polymorphisms with skeletal muscle phenotypes (i. e. upper and lower body muscular strength and functional tests) in Spanish nonagenarian subjects [n=41, 33 women, 8 men, age: 90-97 years]...
  9. Clarkson P, Devaney J, Gordish Dressman H, Thompson P, Hubal M, Urso M, et al. ACTN3 genotype is associated with increases in muscle strength in response to resistance training in women. J Appl Physiol (1985). 2005;99:154-63 pubmed
    The alpha-actinin 3 (ACTN3) gene encodes a protein of the Z disk of myofibers, and a polymorphism of ACTN3 results in complete loss of the protein...
  10. Norman B, Esbjörnsson M, Rundqvist H, Osterlund T, von Walden F, Tesch P. Strength, power, fiber types, and mRNA expression in trained men and women with different ACTN3 R577X genotypes. J Appl Physiol (1985). 2009;106:959-65 pubmed publisher
    ..two alpha-actinin isoforms, alpha-actinin-2 and alpha-actinin-3, encoded by their respective genes ACTN2 and ACTN3. ACTN2 is expressed in all muscle fiber types, while only type II fibers, and particularly the type IIb fibers, ..
  11. Ma F, Yang Y, Li X, Zhou F, Gao C, Li M, et al. The association of sport performance with ACE and ACTN3 genetic polymorphisms: a systematic review and meta-analysis. PLoS ONE. 2013;8:e54685 pubmed publisher
    ..The angiotensin I-converting enzyme insertion/deletion (ACE I/D) polymorphism and the ?-actinin-3 gene (ACTN3) R577X polymorphism have been most widely studied for such association analysis...
  12. Saunders C, September A, Xenophontos S, Cariolou M, Anastassiades L, Noakes T, et al. No association of the ACTN3 gene R577X polymorphism with endurance performance in Ironman Triathlons. Ann Hum Genet. 2007;71:777-81 pubmed
    Alpha-actinins are major structural components of the Z-discs in skeletal muscle. Alpha-actinin 3 is encoded by the ACTN3 gene and is expressed only in type II muscle fibres...
  13. Vincent B, De Bock K, Ramaekers M, Van den Eede E, Van Leemputte M, Hespel P, et al. ACTN3 (R577X) genotype is associated with fiber type distribution. Physiol Genomics. 2007;32:58-63 pubmed
    ..The X allele of the R577X polymorphism in the ACTN3 gene results in a premature stop codon and alpha-actinin-3 deficiency in XX homozygotes...
  14. Yang N, Schindeler A, McDonald M, Seto J, Houweling P, Lek M, et al. ?-Actinin-3 deficiency is associated with reduced bone mass in human and mouse. Bone. 2011;49:790-8 pubmed publisher
    ..Actinin-3 (ACTN3) is highly expressed in fast skeletal muscle fibres...
  15. Eynon N, Hanson E, Lucia A, Houweling P, Garton F, North K, et al. Genes for elite power and sprint performance: ACTN3 leads the way. Sports Med. 2013;43:803-17 pubmed publisher
    ..b>ACTN3 is the only gene that shows a genotype and performance association across multiple cohorts of elite power athletes,..
  16. Friedlander S, Herrmann A, Lowry D, Mepham E, Lek M, North K, et al. ACTN3 allele frequency in humans covaries with global latitudinal gradient. PLoS ONE. 2013;8:e52282 pubmed publisher
    A premature stop codon in ACTN3 resulting in α-actinin-3 deficiency (the ACTN3 577XX genotype) is common in humans and reduces strength, muscle mass, and fast-twitch fiber diameter, but increases the metabolic efficiency of skeletal ..
  17. Beggs A, Byers T, Knoll J, Boyce F, Bruns G, Kunkel L. Cloning and characterization of two human skeletal muscle alpha-actinin genes located on chromosomes 1 and 11. J Biol Chem. 1992;267:9281-8 pubmed
    ..as a probe, we isolated and characterized full-length cDNA clones for two human alpha-actinin genes (ACTN2 and ACTN3)...
  18. Garatachea N, Fiuza Luces C, Torres Luque G, Yvert T, Santiago C, Gomez Gallego F, et al. Single and combined influence of ACE and ACTN3 genotypes on muscle phenotypes in octogenarians. Eur J Appl Physiol. 2012;112:2409-20 pubmed publisher
    We studied the single and combined influence of the ACE I/D and the ACTN3 R577X polymorphisms on muscle phenotypes (thigh muscles' cross-sectional area assessed with magnetic resonance imaging) and strength (maximal handgrip, 30-s chair ..
  19. Vincent B, Windelinckx A, Nielens H, Ramaekers M, Van Leemputte M, Hespel P, et al. Protective role of alpha-actinin-3 in the response to an acute eccentric exercise bout. J Appl Physiol (1985). 2010;109:564-73 pubmed publisher
    The ACTN3 gene encodes for the alpha-actinin-3 protein, which has an important structural function in the Z line of the sarcomere in fast muscle fibers...
  20. Alfred T, Ben Shlomo Y, Cooper R, Hardy R, Cooper C, Deary I, et al. ACTN3 genotype, athletic status, and life course physical capability: meta-analysis of the published literature and findings from nine studies. Hum Mutat. 2011;32:1008-18 pubmed publisher
    The ACTN3 R577X (rs1815739) genotype has been associated with athletic status and muscle phenotypes, although not consistently...
  21. Walsh S, Liu D, Metter E, Ferrucci L, Roth S. ACTN3 genotype is associated with muscle phenotypes in women across the adult age span. J Appl Physiol (1985). 2008;105:1486-91 pubmed publisher
    The R577X polymorphism in the alpha-actinin-3 encoding gene (ACTN3) has been associated with elite athletic performance, and recently with differences in isometric and dynamic muscle strength and power in the general population...
  22. Delmonico M, Kostek M, Doldo N, Hand B, Walsh S, Conway J, et al. Alpha-actinin-3 (ACTN3) R577X polymorphism influences knee extensor peak power response to strength training in older men and women. J Gerontol A Biol Sci Med Sci. 2007;62:206-12 pubmed
    The alpha-actinin-3 (ACTN3) R577X polymorphism has been associated with muscle power performance in cross-sectional studies...
  23. Gomez Gallego F, Santiago C, Gonzalez Freire M, Muniesa C, Fernández Del Valle M, Perez M, et al. Endurance performance: genes or gene combinations?. Int J Sports Med. 2009;30:66-72 pubmed publisher
    ..between variants of the genes encoding for the angiotensin-converting enzyme ( ACE) and alpha-actinin-3 ( ACTN3) (both individually and combined) and several endurance phenotypic traits, e.g...
  24. Eynon N, Alves A, Yamin C, Duarte J, Oliveira J, Ayalon M, et al. Is there an ACE ID - ACTN3 R577X polymorphisms interaction that influences sprint performance?. Int J Sports Med. 2009;30:888-91 pubmed publisher
    Functional R577X (rs.1815739) and ID (rs.5186) polymorphisms in the alpha-actinin-3 ( ACTN3) and the angiotensin converting enzyme (ACE) genes, respectively, have been associated with sprint performance...
  25. McCauley T, Mastana S, Folland J. ACE I/D and ACTN3 R/X polymorphisms and muscle function and muscularity of older Caucasian men. Eur J Appl Physiol. 2010;109:269-77 pubmed publisher
    ..Angiotensin converting enzyme (ACE) I/D and alpha actinin 3 (ACTN3) R/X polymorphisms have been suggested to influence variations in skeletal muscle function and body ..
  26. Chiu L, Wu Y, Tang M, Yu H, Hsieh L, Hsieh S. ACTN3 genotype and swimming performance in Taiwan. Int J Sports Med. 2011;32:476-80 pubmed publisher
    Studies have shown that the 577R allele of ?-actinin-3 (ACTN3) is more prevalent in sprint athletes than in the general population or in endurance athletes...
  27. MacArthur D, North K. A gene for speed? The evolution and function of alpha-actinin-3. Bioessays. 2004;26:786-95 pubmed
    ..is totally deficient in alpha-actinin-3 due to homozygosity for a premature stop codon polymorphism (R577X) in the ACTN3 gene...
  28. Druzhevskaya A, Ahmetov I, Astratenkova I, Rogozkin V. Association of the ACTN3 R577X polymorphism with power athlete status in Russians. Eur J Appl Physiol. 2008;103:631-4 pubmed publisher
    The alpha-actinin-3 (ACTN3) gene encodes a Z-disc structural protein which is found only in fast glycolytic muscle fibers...
  29. Vincent B, Windelinckx A, Van Proeyen K, Masschelein E, Nielens H, Ramaekers M, et al. Alpha-actinin-3 deficiency does not significantly alter oxidative enzyme activity in fast human muscle fibres. Acta Physiol (Oxf). 2012;204:555-61 pubmed publisher
    ..complete deficiency of the alpha-actinin-3 protein owing to homozygosity for a stop codon mutation (R577X) in the ACTN3 gene...
  30. Berman Y, North K. A gene for speed: the emerging role of alpha-actinin-3 in muscle metabolism. Physiology (Bethesda). 2010;25:250-9 pubmed publisher
    A common polymorphism (R577X) in the ACTN3 gene results in complete deficiency of alpha-actinin-3 protein in approximately 16% of humans worldwide...
  31. Judson R, Wackerhage H, Hughes A, Mavroeidi A, Barr R, Macdonald H, et al. The functional ACTN3 577X variant increases the risk of falling in older females: results from two large independent cohort studies. J Gerontol A Biol Sci Med Sci. 2011;66:130-5 pubmed publisher
    ..We investigated whether a common functional variant of skeletal muscle ?-actinin-3 (ACTN3 p...
  32. Eynon N, Alves A, Meckel Y, Yamin C, Ayalon M, Sagiv M, et al. Is the interaction between HIF1A P582S and ACTN3 R577X determinant for power/sprint performance?. Metabolism. 2010;59:861-5 pubmed publisher
    ..athletes) and 240 healthy controls and (2) to analyze the influence of the interaction between HIF1A Pro582Ser and ACTN3 R577X (rs1815739) genotypes on sprint performance...
  33. Papadimitriou I, Papadopoulos C, Kouvatsi A, Triantaphyllidis C. The ACTN3 gene in elite Greek track and field athletes. Int J Sports Med. 2008;29:352-5 pubmed
    ..Olympic champion is still in its nascence, but recent work has provided findings regarding the association of the ACTN3 gene on athletic performance...
  34. Ahmetov I, Druzhevskaya A, Lyubaeva E, Popov D, Vinogradova O, Williams A. The dependence of preferred competitive racing distance on muscle fibre type composition and ACTN3 genotype in speed skaters. Exp Physiol. 2011;96:1302-10 pubmed publisher
    It is generally accepted that muscle fibre composition may influence physical performance. The ?-actinin-3 (ACTN3) gene R577X polymorphism is suspected to be one of the contributing gene variations in the determination of muscle fibre ..
  35. Moran C, Yang N, Bailey M, Tsiokanos A, Jamurtas A, MacArthur D, et al. Association analysis of the ACTN3 R577X polymorphism and complex quantitative body composition and performance phenotypes in adolescent Greeks. Eur J Hum Genet. 2007;15:88-93 pubmed
    The functional allele (577R) of ACTN3, which encodes human alpha-actinin-3, has been reported to be associated with elite athletic status and with response to resistance training, while the nonfunctional allele (577X) has been proposed ..
  36. Lucia A, Gomez Gallego F, Santiago C, Bandres F, Earnest C, Rabadan M, et al. ACTN3 genotype in professional endurance cyclists. Int J Sports Med. 2006;27:880-4 pubmed
    ..of European ancestry is totally deficient in this protein, due to homozygosity for a R577X polymorphism in the ACTN3 gene...
  37. Shang X, Huang C, Chang Q, Zhang L, Huang T. Association between the ACTN3 R577X polymorphism and female endurance athletes in China. Int J Sports Med. 2010;31:913-6 pubmed publisher
    The ?-actinin 3 ( ACTN3) gene is absent in 18% of healthy white individuals owing to homozygosity for a premature stop codon polymorphism (rs1815739) and is only expressed in the Z line of fast glycolytic muscle fibres...
  38. North K, Yang N, Wattanasirichaigoon D, Mills M, Easteal S, Beggs A. A common nonsense mutation results in alpha-actinin-3 deficiency in the general population. Nat Genet. 1999;21:353-4 pubmed
  39. Eynon N, Ruiz J, Femia P, Pushkarev V, Cieszczyk P, Maciejewska Karlowska A, et al. The ACTN3 R577X polymorphism across three groups of elite male European athletes. PLoS ONE. 2012;7:e43132 pubmed publisher
    The ACTN3 R577X polymorphism (rs1815739) is a strong candidate to influence elite athletic performance...
  40. Ruiz J, Arteta D, Buxens A, Artieda M, Gomez Gallego F, Santiago C, et al. Can we identify a power-oriented polygenic profile?. J Appl Physiol (1985). 2010;108:561-6 pubmed publisher
    ..that are candidates to explain individual variations in elite power athletic status or power phenotypes (ACE I/D, ACTN3 R577X, AGT Met235Thr, GDF-8 K153R, IL6 -174 G/C, and NOS3 -786T>C) in 53 elite track and field power athletes (..
  41. Eynon N, Duarte J, Oliveira J, Yamin C, Meckel Y, Sagiv M, et al. ACTN3 R577X polymorphism and Israeli top-level athletes. Int J Sports Med. 2009;30:695-8 pubmed publisher
    A common genetic variation in the alpha-actinin-3 ( ACTN3) gene causes a replacement of an arginine (R) with a premature stop codon (X) at amino-acid 577 (rs1815739)...
  42. Roth S, Walsh S, Liu D, Metter E, Ferrucci L, Hurley B. The ACTN3 R577X nonsense allele is under-represented in elite-level strength athletes. Eur J Hum Genet. 2008;16:391-4 pubmed
    Previous reports have shown a lower proportion of the ACTN3 X/X genotype (R577X nonsense polymorphism) in sprint-related athletes compared to the general population, possibly attributed to impairment of muscle function related to alpha-..
  43. Döring F, Onur S, Geisen U, Boulay M, Perusse L, Rankinen T, et al. ACTN3 R577X and other polymorphisms are not associated with elite endurance athlete status in the Genathlete study. J Sports Sci. 2010;28:1355-9 pubmed publisher
    Homozygosity for a premature stop codon at amino acid position 577 in the alpha-actinin-3 (ACTN3) gene leads to ?-actinin-3 deficiency. This genotype is observed in approximately 18% of Caucasians...
  44. Zempo H, Tanabe K, Murakami H, Iemitsu M, Maeda S, Kuno S. ACTN3 polymorphism affects thigh muscle area. Int J Sports Med. 2010;31:138-42 pubmed publisher
    ..We aimed to investigate whether alpha-actinin-3 (ACTN3) gene R577X polymorphism affects muscle mass in older Japanese women. A total of 109 women (mean+/-SD, 64.1+/-6...
  45. Yang N, MacArthur D, Gulbin J, Hahn A, Beggs A, Easteal S, et al. ACTN3 genotype is associated with human elite athletic performance. Am J Hum Genet. 2003;73:627-31 pubmed
    ..is absent in 18% of healthy white individuals because of homozygosity for a common stop-codon polymorphism in the ACTN3 gene, R577X...
  46. Yang N, Garton F, North K. alpha-actinin-3 and performance. Med Sport Sci. 2009;54:88-101 pubmed publisher
    The human sarcomeric alpha-actinins (ACTN2 and ACTN3) are major structural components of the Z line in skeletal muscle; they play a role in the maintenance of sarcomeric integrity and also interact with a wide variety of structural, ..
  47. Shang X, Li Z, Cao X, Xie C, Gu M, Chen P, et al. The association between the ACTN3 R577X polymorphism and noncontact acute ankle sprains. J Sports Sci. 2015;33:1775-9 pubmed publisher
    ..The ACTN3 gene that encodes the α-actinin-3 protein, which is, only expressed in the Z line of fast glycolytic muscle ..
  48. Pimenta E, Coelho D, Veneroso C, Barros Coelho E, Cruz I, Morandi R, et al. Effect of ACTN3 gene on strength and endurance in soccer players. J Strength Cond Res. 2013;27:3286-92 pubmed publisher
    Sports efficiency in activities in which strength and speed are the determining factors has been associated to the ACTN3 gene, which is responsible for the expression of ?-actinin-3...
  49. Chung K, Richards T, Nicot R, Vieira A, Cruz C, Raoul G, et al. ENPP1 and ESR1 genotypes associated with subclassifications of craniofacial asymmetry and severity of temporomandibular disorders. Am J Orthod Dentofacial Orthop. 2017;152:631-645 pubmed publisher
    We investigated whether ACTN3, ENPP1, ESR1, PITX1, and PITX2 genes which contribute to sagittal and vertical malocclusions also contribute to facial asymmetries and temporomandibular disorders (TMD) before and after orthodontic and ..
  50. Lee F, Houweling P, North K, Quinlan K. How does α-actinin-3 deficiency alter muscle function? Mechanistic insights into ACTN3, the 'gene for speed'. Biochim Biophys Acta. 2016;1863:686-93 pubmed publisher
    ..people worldwide are deficient in the skeletal muscle protein α-actinin-3 due to homozygosity for the common ACTN3 R577X polymorphism...
  51. Zebrick B, Teeramongkolgul T, Nicot R, Horton M, Raoul G, Ferri J, et al. ACTN3 R577X genotypes associate with Class II and deepbite malocclusions. Am J Orthod Dentofacial Orthop. 2014;146:603-11 pubmed publisher
    ..ACTN2 is expressed in slow type I and fast type II fibers, whereas ACTN3 is expressed only in fast fibers...
  52. Bernardez Pereira S, Santos P, Krieger J, Mansur A, Pereira A. ACTN3 R577X polymorphism and long-term survival in patients with chronic heart failure. BMC Cardiovasc Disord. 2014;14:90 pubmed publisher
    Previous studies have shown the occurrence of actinin-3 deficiency in the presence of the R577X polymorphism in the ACTN3 gene...
  53. Orysiak J, Sitkowski D, Zmijewski P, Malczewska Lenczowska J, Cieszczyk P, Zembron Lacny A, et al. Overrepresentation of the ACTN3 XX genotype in elite canoe and kayak paddlers. J Strength Cond Res. 2015;29:1107-12 pubmed publisher
    The aim of the study was to examine the association between the ACTN3 R577X polymorphism in canoe sprint athletes (canoe and kayak paddlers) and their results at 200- or 1000-m distance...
  54. Norman B, Esbjörnsson M, Rundqvist H, Osterlund T, Glenmark B, Jansson E. ACTN3 genotype and modulation of skeletal muscle response to exercise in human subjects. J Appl Physiol (1985). 2014;116:1197-203 pubmed publisher
    Actinin-3 is a Z-disc protein expressed only in type II muscle fibers. A polymorphism in the ACTN3 gene (R577X) results in lack of ?-actinin-3 in XX genotype...
  55. Galeandro V, Notarnicola A, Bianco A, Tafuri S, Russo L, Pesce V, et al. ACTN3/ACE genotypes and mitochondrial genome in professional soccer players? performance. J Biol Regul Homeost Agents. 2017;31:207-213 pubmed
    Two nuclear genes, ACTN3, encoding for the ?-actinin skeletal muscle isoform 3, and ACE encoding the angiotensin-converting enzyme, have both been associated with quantitative physical performance traits in the general population...
  56. Amorim C, Acuña Alonzo V, Salzano F, Bortolini M, Hünemeier T. Differing evolutionary histories of the ACTN3*R577X polymorphism among the major human geographic groups. PLoS ONE. 2015;10:e0115449 pubmed publisher
    It has been proposed that the functional ACTN3*R577X polymorphism might have evolved due to selection in Eurasian human populations...
  57. Agarwal S, Simonds W, Marx S. The parafibromin tumor suppressor protein interacts with actin-binding proteins actinin-2 and actinin-3. Mol Cancer. 2008;7:65 pubmed publisher
    ..These data also suggest that actinins (and actin) participate in sequestering parafibromin in the cytoplasmic compartment. ..
  58. Buxens A, Ruiz J, Arteta D, Artieda M, Santiago C, Gonzalez Freire M, et al. Can we predict top-level sports performance in power vs endurance events? A genetic approach. Scand J Med Sci Sports. 2011;21:570-9 pubmed publisher
    ..Such trait is likely not reducible to defined genetic polymorphisms. ..
  59. Asanuma K, Kim K, Oh J, Giardino L, Chabanis S, Faul C, et al. Synaptopodin regulates the actin-bundling activity of alpha-actinin in an isoform-specific manner. J Clin Invest. 2005;115:1188-98 pubmed
    ..In concert, synaptopodin regulates the actin-bundling activity of alpha-actinin in highly dynamic cell compartments, such as podocyte FPs and the dendritic spine apparatus. ..
  60. Aranalde L, Pederzoli B, Marten T, Barros F, Basso R, Silveira J, et al. The ACTN3 R577X polymorphism affects the lipid profile and the prognosis of nutritional intervention in HIV-positive patients. Nutr Res. 2016;36:564-74 pubmed publisher
    The hypothesis of the present study is that the polymorphisms in the APOC3, CEPT, ACE, and ACTN3 genes can affect the outcome of nutritional intervention and the plasma lipid profile of HIV+ patients...