This gene encodes a member of the filamin family. The encoded protein interacts with glycoprotein Ib alpha as part of the process to repair vascular injuries. The platelet glycoprotein Ib complex includes glycoprotein Ib alpha, and it binds the actin cytoskeleton. Mutations in this gene have been found in several conditions: atelosteogenesis type 1 and type 3\; boomerang dysplasia\; autosomal dominant Larsen syndrome\; and spondylocarpotarsal synostosis syndrome. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Nov 2009].
Thompson, Shah, Ntranos, Van Gool, Atkinson, Bhushan: "Targeted Elimination of Senescent Beta Cells Prevents Type 1 Diabetes." in: Cell metabolism, Vol. 29, Issue 5, pp. 1045-1060.e10, (2019) (PubMed).
Thompson, Shah, Apostolopolou, Bhushan: "BET Proteins Are Required for Transcriptional Activation of the Senescent Islet Cell Secretome in Type 1 Diabetes." in: International journal of molecular sciences, Vol. 20, Issue 19, (2019) (PubMed).
Artym, Swatkoski, Matsumoto, Campbell, Petrie, Dimitriadis, Li, Mueller, Bugge, Gucek, Yamada: "Dense fibrillar collagen is a potent inducer of invadopodia via a specific signaling network." in: The Journal of cell biology, Vol. 208, Issue 3, pp. 331-50, (2015) (PubMed).
Stadler, Hjelmare, Neumann, Jonasson, Pepperkok, Uhlén, Lundberg: "Systematic validation of antibody binding and protein subcellular localization using siRNA and confocal microscopy." in: Journal of proteomics, Vol. 75, Issue 7, pp. 2236-51, (2012) (PubMed).
Takafuta, Wu, Murphy, Shapiro: "Human beta-filamin is a new protein that interacts with the cytoplasmic tail of glycoprotein Ibalpha." in: The Journal of biological chemistry, Vol. 273, Issue 28, pp. 17531-8, (1998) (PubMed).