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Gene Review

ACTC1  -  actin, alpha, cardiac muscle 1

Homo sapiens

Synonyms: ACTC, ASD5, Actin, alpha cardiac muscle 1, Alpha-cardiac actin, CMD1R, ...
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Disease relevance of ACTC1


High impact information on ACTC1

  • Missense mutations in ACTC that cosegregate with IDC were identified in two unrelated families [1].
  • 0. Further linkage analyses of plausible candidate genes highly expressed in the adult human heart identified ACTC as the most likely disease gene, showing a maximal lod score of 3 [2].
  • We hypothesize that ACTC mutations affecting sarcomere contraction lead to FHC and that mutations affecting force transmission from the sarcomere to the surrounding syncytium lead to IDC [2].
  • Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy [2].
  • We examined the ability of muscle-specific factors to induce the expression of the human muscle alpha-cardiac actin gene promoter when stably transfected into mouse fibroblast L cells [5].

Biological context of ACTC1


Anatomical context of ACTC1


Associations of ACTC1 with chemical compounds


Other interactions of ACTC1

  • Following these findings, we examined three polymorphic markers (D15S1360, L76630, and ACTC) on chromosome 15q13-14 near the CHRNA7 gene for linkage to schizophrenia, using 54 pedigrees from an independent study [15].
  • Mutations in the human cardiac actin gene (ACTC) have been implicated in the development of hypertrophic or dilated cardiomyopathy in humans [16].
  • RESULTS: We found a 4 bp ACTC deletion between nucleotides 1464 and 1467 in the second exon of the normal DAX-1 sequence [17].
  • Analyses of mitochondrial 12S, 16S, and ND2, along with nuclear ACTC and Rhodopsin sequences from 12 species greatly increased bootstrap, and likelihood support for internal branches including a basal split into two pan-African 20-chromosome clades [18].
  • The mRNAs of beta-MHC, desmin, alpha-cardiac actin, and cardiac troponin T were highly expressed in the myogenic cells [19].

Analytical, diagnostic and therapeutic context of ACTC1


  1. Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. Olson, T.M., Michels, V.V., Thibodeau, S.N., Tai, Y.S., Keating, M.T. Science (1998) [Pubmed]
  2. Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy. Mogensen, J., Klausen, I.C., Pedersen, A.K., Egeblad, H., Bross, P., Kruse, T.A., Gregersen, N., Hansen, P.S., Baandrup, U., Borglum, A.D. J. Clin. Invest. (1999) [Pubmed]
  3. Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy. Olson, T.M., Doan, T.P., Kishimoto, N.Y., Whitby, F.G., Ackerman, M.J., Fananapazir, L. J. Mol. Cell. Cardiol. (2000) [Pubmed]
  4. Functional consequences of a mutation in an expressed human alpha-cardiac actin at a site implicated in familial hypertrophic cardiomyopathy. Bookwalter, C.S., Trybus, K.M. J. Biol. Chem. (2006) [Pubmed]
  5. In vivo system for characterizing clonal variation and tissue-specific gene regulatory factors based on function. Hardeman, E.C., Minty, A., Benton-Vosman, P., Kedes, L., Blau, H.M. J. Cell Biol. (1988) [Pubmed]
  6. Chromosomal location of the co-expressed human skeletal and cardiac actin genes. Gunning, P., Ponte, P., Kedes, L., Eddy, R., Shows, T. Proc. Natl. Acad. Sci. U.S.A. (1984) [Pubmed]
  7. Dinucleotide repeat polymorphism in the human alpha-cardiac actin gene, intron IV (ACTC), detected using the polymerase chain reaction. Watkins, C., Bodfish, P., Warne, D., Nyberg, K., Spurr, N.K. Nucleic Acids Res. (1991) [Pubmed]
  8. A linkage map of human chromosome 15 with an average resolution of 2 cM and containing 55 polymorphic microsatellites. Beckmann, J.S., Tomfohrde, J., Barnes, R.I., Williams, M., Broux, O., Richard, I., Weissenbach, J., Bowcock, A.M. Hum. Mol. Genet. (1993) [Pubmed]
  9. Fine mapping the candidate region for peripheral neuropathy with or without agenesis of the corpus callosum in the French Canadian population. Howard, H.C., Dubé, M.P., Prévost, C., Bouchard, J.P., Mathieu, J., Rouleau, G.A. Eur. J. Hum. Genet. (2002) [Pubmed]
  10. Regional localization of the gene for cardiac muscle actin (ACTC) on chromosome 15q. Kramer, P.L., Luty, J.A., Litt, M. Genomics (1992) [Pubmed]
  11. alpha-skeletal and alpha-cardiac actin genes are coexpressed in adult human skeletal muscle and heart. Gunning, P., Ponte, P., Blau, H., Kedes, L. Mol. Cell. Biol. (1983) [Pubmed]
  12. Expression of phospholamban mRNA during early avian muscle morphogenesis is distinct from that of alpha-actin. Toyofuku, T., Doyle, D.D., Zak, R., Kordylewski, L. Dev. Dyn. (1993) [Pubmed]
  13. Trypanosoma cruzi infection affects actin mRNA regulation in heart muscle cells. Pereira, M.C., Singer, R.H., de Meirelles, M.N. J. Eukaryot. Microbiol. (2000) [Pubmed]
  14. Tumor necrosis factor inhibits human myogenesis in vitro. Miller, S.C., Ito, H., Blau, H.M., Torti, F.M. Mol. Cell. Biol. (1988) [Pubmed]
  15. No evidence for linkage between schizophrenia and markers at chromosome 15q13-14. Curtis, L., Blouin, J.L., Radhakrishna, U., Gehrig, C., Lasseter, V.K., Wolyniec, P., Nestadt, G., Dombroski, B., Kazazian, H.H., Pulver, A.E., Housman, D., Bertrand, D., Antonarakis, S.E. Am. J. Med. Genet. (1999) [Pubmed]
  16. Expression of actin mutants to study their roles in cardiomyopathy. Rutkevich, L.A., Teal, D.J., Dawson, J.F. Can. J. Physiol. Pharmacol. (2006) [Pubmed]
  17. A microdeletion within DAX-1 in X-linked adrenal hypoplasia congenita and hypogonadotrophic hypogonadism. Wang, J., Killinger, D.W., Hegele, R.A. J. Investig. Med. (1999) [Pubmed]
  18. Molecular systematics of African 20-chromosome toads (Anura: Bufonidae). Cunningham, M., Cherry, M.I. Mol. Phylogenet. Evol. (2004) [Pubmed]
  19. Mesenchymal stem cells from adult human bone marrow differentiate into a cardiomyocyte phenotype in vitro. Xu, W., Zhang, X., Qian, H., Zhu, W., Sun, X., Hu, J., Zhou, H., Chen, Y. Exp. Biol. Med. (Maywood) (2004) [Pubmed]
  20. Cardiac myxoma cells exhibit embryonic endocardial stem cell features. Orlandi, A., Ciucci, A., Ferlosio, A., Genta, R., Spagnoli, L.G., Gabbiani, G. J. Pathol. (2006) [Pubmed]
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