The NPAS3 gene encodes Neuronal PAS Domain Protein 3, a transcription factor expressed predominantly in the brain. NPAS3 is a member of the bHLH-PAS family of transcription factors and plays critical roles in neural development, cognitive function, and synaptic plasticity.
| Attribute | Value |
|---|---|
| Symbol | NPAS3 |
| Full Name | Neuronal PAS Domain Protein 3 |
| Chromosomal Location | 12q23.3 |
| NCBI Gene ID | 64067 |
| OMIM | 607026 |
| Ensembl ID | ENSG00000173137 |
| UniProt | Q8TDW5 |
NPAS3 functions as a transcriptional regulator:
| Disease | Mechanism | Evidence |
|---|---|---|
| Alzheimer's Disease | NPAS3 expression is altered in AD; dysfunction may affect neuronal resilience | PMID: 25611507 |
| Schizophrenia | NPAS3 mutations are associated with schizophrenia risk; affects brain development | PMID: 19715439 |
| Intellectual Disability | NPAS3 haploinsufficiency causes neurodevelopmental disorders | PMID: 23622248 |
NPAS3 represents a potential target for: