Genomes and Genes
Gene Symbol: Actn3
Description: actinin alpha 3
- Ogura Y, Naito H, Kakigi R, Ichinoseki Sekine N, Kurosaka M, Katamoto S. Alpha-actinin-3 levels increase concomitantly with fast fibers in rat soleus muscle. Biochem Biophys Res Commun. 2008;372:584-8 pubmed publisher..0007) and dramatically. These results indicate that alpha-actinin-3 levels increase concomitantly with increases in skeletal muscle fast fibers. ..
- MacArthur D, Seto J, Chan S, Quinlan K, Raftery J, Turner N, et al. An Actn3 knockout mouse provides mechanistic insights into the association between alpha-actinin-3 deficiency and human athletic performance. Hum Mol Genet. 2008;17:1076-86 pubmed publisherA common nonsense polymorphism (R577X) in the ACTN3 gene results in complete deficiency of the fast skeletal muscle fiber protein alpha-actinin-3 in an estimated one billion humans worldwide...
- Beqqali A, Monshouwer Kloots J, Monteiro R, Welling M, Bakkers J, Ehler E, et al. CHAP is a newly identified Z-disc protein essential for heart and skeletal muscle function. J Cell Sci. 2010;123:1141-50 pubmed publisher..These findings suggest that CHAP is a critical component of the sarcomere with an important role in muscle development. ..
- MacArthur D, Seto J, Raftery J, Quinlan K, Huttley G, Hook J, et al. Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans. Nat Genet. 2007;39:1261-5 pubmed..muscle fiber protein alpha-actinin-3 owing to homozygosity for a premature stop codon polymorphism, R577X, in the ACTN3 gene...
- Keicher C, Gambaryan S, Schulze E, Marcus K, Meyer H, Butt E. Phosphorylation of mouse LASP-1 on threonine 156 by cAMP- and cGMP-dependent protein kinase. Biochem Biophys Res Commun. 2004;324:308-16 pubmed..Immunoblotting of LASP-1 in various mouse and human tissues detected a similar prominent expression in non-muscle tissue. Altogether, our data suggest so far no functional differences between human and mouse LASP-1. ..
- Garton F, Seto J, Quinlan K, Yang N, Houweling P, North K. ?-Actinin-3 deficiency alters muscle adaptation in response to denervation and immobilization. Hum Mol Genet. 2014;23:1879-93 pubmed publisherHomozygosity for a common null polymorphism (R577X) in the ACTN3 gene results in the absence of the fast fibre-specific protein, ?-actinin-3 in ?16% of humans worldwide...
- Dixson J, Forstner M, Garcia D. The alpha-actinin gene family: a revised classification. J Mol Evol. 2003;56:1-10 pubmed..In addition, the topology found for this gene family undermines the 2R hypothesis theory of two rounds of genome duplication early in vertebrate evolution. ..