Filamin

Filamin is a protein that in humans is encoded by the FLNA gene. Filamin helps form the cellular structure known as the cytoskeleton. The cytoskeleton gives shape to cells and allows them to move. Filamin is found throughout the body, but it is most abundant in the brain, where it helps nerve cells (neurons) extend and maintain their long, slender projections (axons and dendrites).

Structure

Filamin is a large protein composed of an actin-binding domain and a rod domain that consists of 24 repeating segments. The actin-binding domain allows filamin to attach (bind) to filaments of a protein called actin, which is a major component of the cytoskeleton. The rod domain allows filamin to cross-link actin filaments, creating a three-dimensional lattice of these structural proteins.

Function

Filamin plays a critical role in cell movement (migration) and structure. It helps cells change shape, move, and maintain their structure by linking actin filaments to each other and to other proteins. Filamin also interacts with many other proteins inside cells, helping to regulate cell signaling, which controls many cellular activities.

Clinical significance

Mutations in the FLNA gene can cause a variety of conditions, including periventricular nodular heterotopia, otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia, Melnick-Needles syndrome, and terminal osseous dysplasia with pigmentary defects.

See also

• Actin
• Cytoskeleton
• Periventricular nodular heterotopia
• Otopalatodigital syndrome
• Frontometaphyseal dysplasia
• Melnick-Needles syndrome
• Terminal osseous dysplasia

References

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