Filamin A (FLNA) is a large (280 kDa) actin-binding protein that functions as a molecular scaffold for cytoskeletal organization, cell signaling, and mechanical stability. In the brain, FLNA is essential for neuronal migration, dendritic spine formation, and synaptic plasticity. Mutations in the FLNA gene cause periventricular heterotopia (PVNH), a disorder of neuronal migration, and FLNA dysfunction has been implicated in various neurodegenerative conditions.
The FLNA gene is located on chromosome Xq28 and encodes a protein of 2,647 amino acids. FLNA contains:
Each repeat can bind different proteins, making FLNA a versatile scaffold protein.
FLNA is highly expressed in:
X-linked dominant mutations in FLNA cause periventricular heterotopia, characterized by:
FLNA alterations in AD include:
FLNA interactions:
├── [Rho GTPases](/entities/rho-gtpases) → Cytoskeletal dynamics
├── [Integrins](/entities/integrins) → Cell adhesion
├── [CaMKII](/proteins/camk2a-protein) → Synaptic plasticity
├── [GABAA receptors](/proteins/gabaa-receptor) → Synaptic inhibition
├── [NMDA receptors](/entities/nmda-receptor) → Synaptic transmission
└── [APP](/proteins/app) → Neuronal survival
FLNA expression changes may serve as: