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.
References in periodicals archive ?
And Vivek Sankaran, COO of FLNA, has been promoted to president and COO of FLNA.
Working closely with Portugal, in January of 1975 the MPLA, UNITA, and FLNA hammered out the Alvor Agreement, which negotiated a multiparty transition government for an independent Angola with elections to follow.
(10) Mutations in the FLNA gene can be associated with West syndrome and familial periventricular heterotopias.
By the summer of 1925 the CCF was replaced with the Fascist League of North America, or FLNA, and Il Caroccio of Di Blasi gave way to another official organ of diffusion, Giovinezza.
Founded by Holden Roberto, it changed its name to the Front for the Liberation of Angola (FLNA) as part of an attempt to go beyond a tribal basis and reach out to groups not previously in the UPA.
Brand Strength, Global Diversity: More than half of PepsiCo's LTM (through June 16, 2018) $64 billion in net revenue is derived from snacks with more than 40% of PepsiCo's operating profit generated by its higher margin Frito-Lay North America (FLNA) segment, which has experienced good organic growth trends (4% LTM period).
N-Acetyl-glucosamine-6-sulfatase (GNS) and filamin A (FLNA) were identified as autoantigens that produce responses from both T and B cells, in over 50% of RA patients, but not in healthy controls or patients with other rheumatic diseases.
The mutations in X-linked gene, filamin A ( FLNA ) gene, were identified in approximately 100% of familial PNHs and 25% of sporadic cases.[sup][2],[3] Here, we reported a novel frameshift mutation of FLNA gene in a Chinese family with PNH.