FLNB

FLNB is a gene that encodes the protein filamin B in humans. Filamin B is a member of the filamin family, which are actin-binding proteins that help to organize the three-dimensional structure of cells by anchoring actin filaments to the cell membrane. Mutations in the FLNB gene can lead to a variety of skeletal disorders.

Function

The FLNB gene provides instructions for making a protein called filamin B. This protein is found in cells throughout the body, where it helps control the shape and movement of cells. Filamin B binds to another protein called actin, and the two proteins work together to build the network of protein filaments that gives structure to cells. This network, known as the cytoskeleton, is involved in many critical cell activities, including cell movement, cell division, and the transport of materials within cells.

Clinical significance

Mutations in the FLNB gene can cause a variety of conditions, all of which involve abnormalities of skeletal development. These conditions include spondylocarpotarsal synostosis syndrome, Larsen syndrome, Atelosteogenesis type I, and Atelosteogenesis type III. These conditions are characterized by short stature, skeletal abnormalities, and joint problems.

See also

• Filamin
• Actin
• Cytoskeleton
• Spondylocarpotarsal synostosis syndrome
• Larsen syndrome
• Atelosteogenesis

References

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External links

• FLNB at the National Institutes of Health's Genetics Home Reference
• FLNB at the National Center for Biotechnology Information

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