FLNA

(redirected from filamin-1)

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.
References in periodicals archive ?
These diseases are believed to have a genetic basis and have been linked to mutations and/or deletions in the double cortin (DCX), filamin-1, LISI, reelin (RENL), tubulin (TUBA1A), and aristaless-related homeobox (ARX) genes, (DOBYNS et al.
Lissencephaly is a malformation that occurs relatively often in humans, and mutations in the LIS1, doublecortin (DCX), filamin-1, tubulin A1A (TUBA1A), and reelin (RELN) genes have been linked to the occurrence of this condition.