ACTN3 (gene)

Actinin, alpha 3, also known as ACTN3, is a human gene.cite web | title = Entrez Gene: ACTN3 actinin, alpha 3| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=89| accessdate = ]

PBB_Summary
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summary_text = 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 filamentscite web | title = Entrez Gene: ACTN3 actinin, alpha 3| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=89| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=MacArthur DG, North KN |title=A gene for speed? The evolution and function of alpha-actinin-3. |journal=Bioessays |volume=26 |issue= 7 |pages= 786–95 |year= 2004 |pmid= 15221860 |doi= 10.1002/bies.20061
*cite journal | author=Beggs AH, Byers TJ, Knoll JH, "et al." |title=Cloning and characterization of two human skeletal muscle alpha-actinin genes located on chromosomes 1 and 11. |journal=J. Biol. Chem. |volume=267 |issue= 13 |pages= 9281–8 |year= 1992 |pmid= 1339456 |doi=
*cite journal | author=Yürüker B, Niggli V |title=Alpha-actinin and vinculin in human neutrophils: reorganization during adhesion and relation to the actin network. |journal=J. Cell. Sci. |volume=101 ( Pt 2) |issue= |pages= 403–14 |year= 1992 |pmid= 1629252 |doi=
*cite journal | author=Pavalko FM, LaRoche SM |title=Activation of human neutrophils induces an interaction between the integrin beta 2-subunit (CD18) and the actin binding protein alpha-actinin. |journal=J. Immunol. |volume=151 |issue= 7 |pages= 3795–807 |year= 1993 |pmid= 8104223 |doi=
*cite journal | author=Chan Y, Tong HQ, Beggs AH, Kunkel LM |title=Human skeletal muscle-specific alpha-actinin-2 and -3 isoforms form homodimers and heterodimers in vitro and in vivo. |journal=Biochem. Biophys. Res. Commun. |volume=248 |issue= 1 |pages= 134–9 |year= 1998 |pmid= 9675099 |doi=
*cite journal | author=North KN, Yang N, Wattanasirichaigoon D, "et al." |title=A common nonsense mutation results in alpha-actinin-3 deficiency in the general population. |journal=Nat. Genet. |volume=21 |issue= 4 |pages= 353–4 |year= 1999 |pmid= 10192379 |doi= 10.1038/7675
*cite journal | author=Nikolopoulos SN, Spengler BA, Kisselbach K, "et al." |title=The human non-muscle alpha-actinin protein encoded by the ACTN4 gene suppresses tumorigenicity of human neuroblastoma cells. |journal=Oncogene |volume=19 |issue= 3 |pages= 380–6 |year= 2000 |pmid= 10656685 |doi= 10.1038/sj.onc.1203310
*cite journal | author=Takada F, Vander Woude DL, Tong HQ, "et al." |title=Myozenin: an alpha-actinin- and gamma-filamin-binding protein of skeletal muscle Z lines. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=98 |issue= 4 |pages= 1595–600 |year= 2001 |pmid= 11171996 |doi= 10.1073/pnas.041609698
*cite journal | author=Bang ML, Mudry RE, McElhinny AS, "et al." |title=Myopalladin, a novel 145-kilodalton sarcomeric protein with multiple roles in Z-disc and I-band protein assemblies. |journal=J. Cell Biol. |volume=153 |issue= 2 |pages= 413–27 |year= 2001 |pmid= 11309420 |doi=
*cite journal | author=Mills M, Yang N, Weinberger R, "et al." |title=Differential expression of the actin-binding proteins, alpha-actinin-2 and -3, in different species: implications for the evolution of functional redundancy. |journal=Hum. Mol. Genet. |volume=10 |issue= 13 |pages= 1335–46 |year= 2001 |pmid= 11440986 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Burgueño J, Blake DJ, Benson MA, "et al." |title=The adenosine A2A receptor interacts with the actin-binding protein alpha-actinin. |journal=J. Biol. Chem. |volume=278 |issue= 39 |pages= 37545–52 |year= 2003 |pmid= 12837758 |doi= 10.1074/jbc.M302809200
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Clarkson PM, Devaney JM, Gordish-Dressman H, "et al." |title=ACTN3 genotype is associated with increases in muscle strength in response to resistance training in women. |journal=J. Appl. Physiol. |volume=99 |issue= 1 |pages= 154–63 |year= 2005 |pmid= 15718405 |doi= 10.1152/japplphysiol.01139.2004
*cite journal | author=Franzot G, Sjöblom B, Gautel M, Djinović Carugo K |title=The crystal structure of the actin binding domain from alpha-actinin in its closed conformation: structural insight into phospholipid regulation of alpha-actinin. |journal=J. Mol. Biol. |volume=348 |issue= 1 |pages= 151–65 |year= 2005 |pmid= 15808860 |doi= 10.1016/j.jmb.2005.01.002
*cite journal | author=Clarkson PM, Hoffman EP, Zambraski E, "et al." |title=ACTN3 and MLCK genotype associations with exertional muscle damage. |journal=J. Appl. Physiol. |volume=99 |issue= 2 |pages= 564–9 |year= 2005 |pmid= 15817725 |doi= 10.1152/japplphysiol.00130.2005
*cite journal | author=Asanuma K, Kim K, Oh J, "et al." |title=Synaptopodin regulates the actin-bundling activity of alpha-actinin in an isoform-specific manner. |journal=J. Clin. Invest. |volume=115 |issue= 5 |pages= 1188–98 |year= 2005 |pmid= 15841212 |doi= 10.1172/JCI200523371
*cite journal | author=Niemi AK, Majamaa K |title=Mitochondrial DNA and ACTN3 genotypes in Finnish elite endurance and sprint athletes. |journal=Eur. J. Hum. Genet. |volume=13 |issue= 8 |pages= 965–9 |year= 2005 |pmid= 15886711 |doi= 10.1038/sj.ejhg.5201438
*cite journal | author=Triplett JW, Pavalko FM |title=Disruption of alpha-actinin-integrin interactions at focal adhesions renders osteoblasts susceptible to apoptosis. |journal=Am. J. Physiol., Cell Physiol. |volume=291 |issue= 5 |pages= C909–21 |year= 2006 |pmid= 16807302 |doi= 10.1152/ajpcell.00113.2006

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