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Gene ACTC1; Gene ACTC_Human
Alpha actins are differentially found in the contractile apparatus of the three muscle cell types; sarcomeric (striated) skeletal and cardiac muscle cells and non-sarcomeric smooth muscle cells. Alpha cardiac muscle actin, caActin, alpha-cardiac actin, is a 42 kDa, 375 amino acids long protein coded by the ACTC1 gene (Gene map locus 15q11-q14 ) that is post-translationally modified (PTM) by N-terminal acetylation and methylation (tele-His75). It is one of six actin proteins coded by the highly conserved actin gene family. This family also includes: alpha skeletal, skActin (ACTA1); alpha vascular, SMactin, (ACTA2); beta-actin (ACTB); gamma 1, gamma(cyto) (ACTG1) and gamma enteric, SMGA (ACTG2) actin genes. Actin isotypes are sequence diverse primarily in their N-terminal regions.
Alpha caActin is the monomeric (G-Actin) component of the two-stranded helix structural filament, filamentous actin (F-actin) of cardiac muscle. F-actin composed of caActin monomers are principle components of the thin filament components of cardiac muscle (cardiac myocyte) myofibrils and sarcomeres. The sarcomere is the basic structural element that mediates the contraction of cardiac muscle. Mutations of the ACTC1 gene compromise the structure and function of cardiac muscle myofibrils and their sarcomeres.
ACTA1 mutations have been linked to hereditary hypertrophic (HCM) and dilated (DCM) cardiomyopathies which result in defective sarcomere contraction or force transmission, respectively. DCM is a common cause of heart failure in the young. More specifically, ACTC1 mutations have been linked to familial hypertrophic cardiomyopathy (CMH, FHC, HCM) and to an inherited form of dilated cardiomyopathy (CMDIR).
CAA has consistently been seen in rhabdomyosarcomas and rhabdomyomatous cells of nephroblastomas.
Sigma offers antibodies and shRNAs useful for the study of ACTC1 gene products.
References:
Mogensen J, Klausen IC, Pedersen AK, Egeblad H, Bross P, Kruse TA, Gregersen N, Hansen PS, Baandrup U, Borglum AD. (1999) Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy.
J Clin Invest. 103: R39-43. 313: 180-1.
Vang S, Corydon TJ, Børglum AD, Scott MD, Frydman J, Mogensen J, Gregersen N, Bross P. (2005) Actin mutations in hypertrophic and dilated cardiomyopathy cause inefficient protein folding and perturbed filament formation.
FEBS J. 8: 2037-49.
Moll R, Holzhausen HJ, Mennel HD, Kuhn C, Baumann R, Taege C, Franke WW. (2006) The cardiac isoform of alpha-actin in regenerating and atrophic skeletal muscle, myopathies and rhabdomyomatous tumors: an immunohistochemical study using monoclonal antibodies. Virchows Arch. 449: 175-91.
Footnote: Gene Data Sources: HGNC, Entrez Gene, UniProt/Swiss-Prot, UniProt/TrEMBL, GDB, OMIM, GeneLoc, Ensembl.
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