Pak3 Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
| Gene Symbol | PAK3 |
| Gene Name | p21-Activated Kinase 3 |
| Chromosome | Xq23 |
| NCBI Gene ID | 5063 |
| OMIM | 300142 |
| Ensembl ID | ENSG00000177239 |
| UniProt | O75914 |
| Associated Diseases | X-linked Mental Retardation, Intellectual Disability |
PAK3 is crucial for neuronal development, dendritic arborization, and synaptic plasticity. Mutations cause X-linked intellectual disability.
The PAK3 gene encodes p21-Activated Kinase 3, a protein involved in neuronal function and survival. This gene product plays important roles in the nervous system and has been implicated in various neurodegenerative and neurodevelopmental disorders.
['X-linked Mental Retardation', 'Intellectual Disability'] are associated with mutations in PAK3. Further research is ongoing to understand the precise molecular mechanisms linking PAK3 to these conditions.
PAK3 is expressed in various brain regions, with particularly high expression in areas relevant to motor control, cognition, and sensory processing. Expression patterns may vary during development and in disease states.
This page was created as part of the NeuroWiki gene page creation effort.
The study of Pak3 Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.