FLNA

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FLNA

A gene on chromosome Xq28 that encodes filamin A, an actin-binding protein which crosslinks actin filaments, binding them to membrane glycoproteins. Filamin A is involved in remodelling the cytoskeleton to effect changes in cell shape and migration; it interacts with integrins, transmembrane receptor complexes and second messengers.

Molecular pathology
Defects in FLNA cause:
• Cardiac valvular dysplasia X-linked;
• Frontometaphyseal dysplasia;
• Melnick-Needles syndrome;
• Otopalatodigital syndromes types 1 and 2;
• Periventricular nodular heterotopia types 1 and 4; and
• Terminal osseous dysplasia.
Defects may also cause macrothrombocytopaenia.
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