title: Cytoplasmic Ig-domain proteins: cytoskeletal regulators with a role in human disease.
abstract: Immunoglobulin domains are found in a wide variety of functionally diverse transmembrane proteins, and also in a smaller number of cytoplasmic proteins. Members of this latter group are usually associated with the actin cytoskeleton, and most of them bind directly to either actin or myosin, or both. Recently, studies of inherited human disorders have identified disease-causing mutations in five cytoplasmic Ig-domain proteins: myosin-binding protein C, titin, myotilin, palladin, and myopalladin. Together with results obtained from cultured cells and mouse models, these clinical studies have yielded novel insights into the unexpected roles of Ig domain proteins in mechanotransduction and signaling to the nucleus. An emerging theme in this field is that cytoskeleton-associated Ig domain proteins are more than structural elements of the cell, and may have evolved to fill different needs in different cellular compartments. Cell Motil. Cytoskeleton 2009. (c) 2009 Wiley-Liss, Inc.
authors.affiliation: Department of Cell and Molecular Physiology, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA. carol_otey@med.unc.edu
authors.forename: Carol A
authors.initials: CA
authors.lastname: Otey
authors.forename: Richard
authors.initials: R
authors.lastname: Dixon
authors.forename: Christianna
authors.initials: C
authors.lastname: Stack
authors.forename: Silvia M
authors.initials: SM
authors.lastname: Goicoechea
mesh_terms: D002352:Carrier Proteins / Q000378:metabolism; D064211:Connectin; D003593:Cytoplasm / Q000378:metabolism*; D003598:Cytoskeletal Proteins / Q000378:metabolism; D003599:Cytoskeleton / Q000378:metabolism*; D006801:Humans; D008840:Microfilament Proteins; D008954:Models, Biological; D009124:Muscle Proteins / Q000378:metabolism; D010750:Phosphoproteins / Q000378:metabolism; D011494:Protein Kinases / Q000378:metabolism; D000099163:Myosin Binding Protein C
chemical_list: D002352:Carrier Proteins; D064211:Connectin; D003598:Cytoskeletal Proteins; D008840:Microfilament Proteins; D009124:Muscle Proteins; D010750:Phosphoproteins; D011494:Protein Kinases; D000099163:Myosin Binding Protein C; C577290:MYOT protein, human; C426225:MYPN protein, human; C412722:PALLD protein, human; C577285:TTN protein, human