NEB : nebulin
Description
The NEB gene, located on chromosome 17, encodes for the protein neuroblastoma amplified gene (NAG), a crucial component in the regulation of neuronal development and function. NAG acts as a molecular scaffold, interacting with various proteins involved in signaling pathways and cytoskeletal organization. Its role spans from promoting neuronal survival and differentiation to regulating synaptic plasticity, ultimately influencing cognitive processes and behavior.
Associated Diseases
- Neuroblastoma: NEB gene amplification is associated with aggressive forms of neuroblastoma, a childhood cancer arising from immature nerve cells.
- Intellectual Disability: Mutations in the NEB gene have been linked to intellectual disability, suggesting its critical role in brain development and function.
- Schizophrenia: Studies have implicated NEB gene variations in the susceptibility to schizophrenia, highlighting its involvement in neuronal circuitry and cognitive processes.
Did you know?
The NEB gene is highly expressed in the developing brain, particularly in regions responsible for cognitive function, further emphasizing its importance in brain development.
