Description
Product Characteristics:
Caldesmon, Filamin 1, Nebulin and Villin are differentially expressed and regulated Actin binding proteins. Both muscular (CDh) and non-muscular (CDl) forms of Caldesmon have been identified and each has been shown to bind to Actin as well as to calmodulin and Myosin. CDh is expressed predominantly on thin filaments in smooth muscle, whereas CDl is widely expressed in non-muscle tissues and cells. Filamin 1, which is ubiquitously expressed and exists as a homodimer, functions to crosslink Actin to filaments. Nebulin is a large filamentous protein specific to muscle tissue that may function as a ruler for filament length. Several isoforms of Nebulin are produced by alternative exon usage. Villin is Ca2+-regulated and is the major structural component of the brush border of absorptive cells.
Subcellular location: Cytoplasm
Synonyms: ABP 280, ABP 280 like protein, ABP-280, ABP280A, ABPA, Actin binding like protein, Actin binding protein 280, Actin-binding protein 280, Alpha filamin, Alpha-filamin, APBX, cb967, Dilp2, Endothelial actin binding protein, Endothelial actin-binding protein, Filamin 1, Filamin A alpha actin binding protein 280, Filamin A, Filamin-1, Filamin-A, FLN, FLN-A, FLN1, FLNA, FLNA_HUMAN, FMD, MNS, NHBP, Non muscle filamin, Non-muscle filamin, OPD, OPD1, OPD2.
Target Information: The protein encoded by this gene is an actin-binding protein that crosslinks actin filaments and links actin filaments to membrane glycoproteins. The encoded protein is involved in remodeling the cytoskeleton to effect changes in cell shape and migration. This protein interacts with integrins, transmembrane receptor complexes, and second messengers. Defects in this gene are a cause of several syndromes, including periventricular nodular heterotopias (PVNH1, PVNH4), otopalatodigital syndromes (OPD1, OPD2), frontometaphyseal dysplasia (FMD), Melnick-Needles syndrome (MNS), and X-linked congenital idiopathic intestinal pseudoobstruction (CIIPX). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009]