Cytoplasmic FMR1-interacting protein 2 (CYFIP2)

Cytoplasmic FMR1-interacting protein 2 (CYFIP2) is an evolutionarily conserved protein encoded by the CYFIP2 gene in humans. It is a core component of the WAVE regulatory complex (WRC), which controls actin cytoskeleton dynamics critical for neuronal development, dendritic spine morphology, and synaptic function. CYFIP2 also interacts directly with the fragile X mental retardation protein (FMRP) as well as related translation regulators, linking mRNA transport/local translation to cytoskeletal regulation. Mutations in CYFIP2, particularly de novo variants clustering within key protein domains, have been identified as the cause of severe neurodevelopmental disorders such as early infantile epileptic encephalopathy (EIEE65), characterized by profound intellectual disability, early-onset seizures, and muscular hypotonia. While highly homologous to CYFIP1, CYFIP2 has unique neuronal functions and protein interaction networks. Complete absence of CYFIP2 leads to early postnatal lethality in animal models, demonstrating its essential role in nervous system development. There are currently no drugs known to directly target CYFIP2.

Other names

KIAA1168PIR121p53-inducible protein 121DEE65EIEE65SRA-1cytoplasmic FMRP interacting protein 2