FLNB

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Protein-coding gene in the species Homo sapiens

title: "FLNB" type: doc version: 1 created: 2026-02-28 author: "Wikipedia contributors" status: active scope: public description: "Protein-coding gene in the species Homo sapiens" topic_path: "uncategorized" source: "https://en.wikipedia.org/wiki/FLNB" license: "CC BY-SA 4.0" wikipedia_page_id: 0 wikipedia_revision_id: 0

::summary Protein-coding gene in the species Homo sapiens ::

Filamin B, beta (FLNB), also known as Filamin B, beta (truncated actin binding protein 278 homolog), is a cytoplasmic protein which in humans is encoded by the FLNB gene.

FLNB regulates intracellular communication and signalling by cross-linking the protein actin to allow direct communication between the cell membrane and cytoskeletal network, to control and guide proper skeletal development.

Mutations in the FLNB gene are involved in several lethal bone dysplasias, including boomerang dysplasia and atelosteogenesis type I.

Interactions

FLNB has been shown to interact with GP1BA, Filamin, FBLIM1, PSEN1, CD29 and PSEN2.

References

References

  1. (2007). "Filamin B mutations cause chondrocyte defects in skeletal development". Hum Mol Genet.
  2. (2005). "Mutations in FLNB cause boomerang dysplasia". Am J Med Genet.
  3. (1993). "Lethal bone dysplasia in a fetus with manifestations of Atelosteogenesis type I and Boomerang dysplasia". Am J Med Genet.
  4. (1997). "Atypical skeletal changes in otopalatodigital syndrome type II: phenotypic overlap among otopalatodigital syndrome type II, boomerang dysplasia, atelosteogenesis type I and type III, and lethal male phenotype of Melnick-Needles syndrome". Am J Med Genet.
  5. Takafuta, T. (Jul 1998). "Human beta-filamin is a new protein that interacts with the cytoplasmic tail of glycoprotein Ibalpha". J. Biol. Chem..
  6. Sheen, Volney L. (Nov 2002). "Filamin A and Filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact". Hum. Mol. Genet..
  7. Takafuta, Toshiro. (Apr 2003). "A new member of the LIM protein family binds to filamin B and localizes at stress fibers". J. Biol. Chem..
  8. Zhang, W. (Feb 1998). "Interaction of presenilins with the filamin family of actin-binding proteins". J. Neurosci..
  9. van der Flier, Arjan. (Jan 2002). "Different splice variants of filamin-B affect myogenesis, subcellular distribution, and determine binding to integrin [beta] subunits". J. Cell Biol..

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