Filamin A, alpha (FLNA) is a protein that in humans is encoded by the FLNAgene.[5][6]
Structure
The structure of filamin A, alpha includes an actin binding N terminal domain, 24 internal repeats and 2 hinge regions.[7][8]
Function
Actin-binding protein, or filamin, is a 280-kD protein that crosslinks actin filaments into orthogonal networks in cortical cytoplasm and participates in the anchoring of membrane proteins for the actin cytoskeleton. Remodeling of the cytoskeleton is central to the modulation of cell shape and migration. Filamin A, encoded by the FLNA gene, is a widely expressed filamin that regulates the reorganization of the actin cytoskeleton by interacting with integrins, transmembrane receptor complexes, and secondary messengers.[9] At least 31 disease-causing mutations in this gene have been discovered.[10]
↑"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑Gorlin JB, Henske E, Warren ST, Kunst CB, D'Urso M, Palmieri G, etal. (October 1993). "Actin-binding protein (ABP-280) filamin gene (FLN) maps telomeric to the color vision locus (R/GCP) and centromeric to G6PD in Xq28". Genomics. 17 (2): 496–498. doi:10.1006/geno.1993.1354. PMID8406501.
↑He X, Li Y, Schembri-King J, Jakes S, Hayashi J (August 2000). "Identification of actin binding protein, ABP-280, as a binding partner of human Lnk adaptor protein". Molecular Immunology. 37 (10): 603–612. doi:10.1016/s0161-5890(00)00070-5. PMID11163396.
↑Tsuchiya H, Iseda T, Hino O (July 1996). "Identification of a novel protein (VBP-1) binding to the von Hippel-Lindau (VHL) tumor suppressor gene product". Cancer Research. 56 (13): 2881–2885. PMID8674032.
Robertson S (October 2019). "X-Linked Otopalatodigital Spectrum Disorders". In Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Robertson S (eds.). GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle. PMID20301567. NBK1393.
Chen MH, Walsh CA (September 2021). "FLNA Deficiency". In Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Chen MH, Walsh CA (eds.). GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle. PMID20301392. NBK1213.