[1]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA].
DOI=10.1073/pnas.79.19.5901; PubMed=6310553 [NCBI, ExPASy, EBI, Israel, Japan]
Hamada H.,
Petrino M.G.,
Kakunaga T.;
"Molecular structure and evolutionary origin of human cardiac muscle actin gene.";
Proc. Natl. Acad. Sci. U.S.A. 79:5901-5905(1982).
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[2]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Ebert L.,
Schick M.,
Neubert P.,
Schatten R.,
Henze S.,
Korn B.;
"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201).";
Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
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[3]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Muscle;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
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[4]
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VARIANTS CMD1R HIS-314 AND GLY-363.
DOI=10.1126/science.280.5364.750; PubMed=9563954 [NCBI, ExPASy, EBI, Israel, Japan]
Olson T.M.,
Michels V.V.,
Thibodeau S.N.,
Tai Y.-S.,
Keating M.T.;
"Actin mutations in dilated cardiomyopathy, a heritable form of heart failure.";
Science 280:750-752(1998).
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[5]
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VARIANT CMH11 SER-297.
PubMed=10330430 [NCBI, ExPASy, EBI, Israel, Japan]
Mogensen J.,
Klausen I.C.,
Pedersen A.K.,
Egeblad H.,
Bross P.,
Kruse T.A.,
Gregersen N.,
Hansen P.S.,
Baandrup U.,
Boerglum A.D.;
"Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy.";
J. Clin. Invest. 103:R39-R43(1999).
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[6]
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VARIANTS CMH11 LYS-101; ALA-166 AND PRO-333.
DOI=10.1006/jmcc.2000.1204; PubMed=10966831 [NCBI, ExPASy, EBI, Israel, Japan]
Olson T.M.,
Doan T.P.,
Kishimoto N.Y.,
Whitby F.G.,
Ackerman M.J.,
Fananapazir L.;
"Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy.";
J. Mol. Cell. Cardiol. 32:1687-1694(2000).
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[7]
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VARIANTS CMH11 CYS-168 AND LEU-307.
DOI=10.1136/jmg.2003.010447; PubMed=14729850 [NCBI, ExPASy, EBI, Israel, Japan]
Mogensen J.,
Perrot A.,
Andersen P.S.,
Havndrup O.,
Klausen I.C.,
Christiansen M.,
Bross P.,
Egeblad H.,
Bundgaard H.,
Osterziel K.J.,
Haltern G.,
Lapp H.,
Reinecke P.,
Gregersen N.,
Borglum A.D.;
"Clinical and genetic characteristics of alpha cardiac actin gene mutations in hypertrophic cardiomyopathy.";
J. Med. Genet. 41:E10-E10(2004).
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[8]
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VARIANT VAL-125, AND CHARACTERIZATION OF VARIANT VAL-125.
DOI=10.1093/hmg/ddm302; PubMed=17947298 [NCBI, ExPASy, EBI, Israel, Japan]
Matsson H.,
Eason J.,
Bookwalter C.S.,
Klar J.,
Gustavsson P.,
Sunnegardh J.,
Enell H.,
Jonzon A.,
Vikkula M.,
Gutierrez I.,
Granados-Riveron J.,
Pope M.,
Bu'Lock F.,
Cox J.,
Robinson T.E.,
Song F.,
Brook D.J.,
Marston S.,
Trybus K.M.,
Dahl N.;
"Alpha-cardiac actin mutations produce atrial septal defects.";
Hum. Mol. Genet. 17:256-265(2008).
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[9]
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VARIANTS CMH11 TYR-90 AND CYS-97.
DOI=10.1056/NEJMoa075463; PubMed=18403758 [NCBI, ExPASy, EBI, Israel, Japan]
Morita H.,
Rehm H.L.,
Menesses A.,
McDonough B.,
Roberts A.E.,
Kucherlapati R.,
Towbin J.A.,
Seidman J.G.,
Seidman C.E.;
"Shared genetic causes of cardiac hypertrophy in children and adults.";
N. Engl. J. Med. 358:1899-1908(2008).
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- FUNCTION: Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells.
- SUBUNIT: Polymerization of globular actin (G-actin) leads to a structural filament (F-actin) in the form of a two-stranded helix. Each actin can bind to 4 others.
- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton.
- DISEASE: Defects in ACTC1 are the cause of cardiomyopathy dilated type 1R (CMD1R) [MIM:102540]. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
- DISEASE: Defects in ACTC1 are the cause of cardiomyopathy familial hypertrophic type 11 (CMH11) [MIM:612098]. Familial hypertrophic cardiomyopathy is a hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.
- MISCELLANEOUS: In vertebrates 3 main groups of actin isoforms, alpha, beta and gamma have been identified. The alpha actins are found in muscle tissues and are a major constituent of the contractile apparatus. The beta and gamma actins coexist in most cell types as components of the cytoskeleton and as mediators of internal cell motility.
- SIMILARITY: Belongs to the actin family.
- WEB RESOURCE: Name=Familial hypertrophic cardiomyopathy mutation database; URL="http://www.angis.org.au/Databases/Heart/heartbreak.html";.
- WEB RESOURCE: Name=GeneReviews; URL="http://www.genetests.org/query?gene=ACTC1";.
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