Kcnb1 Gene plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.
Kcnb1 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.
KCNB1 (Potassium Voltage-Gated Channel Subfamily B Member 1) encodes the Kv2.1 potassium channel, a major delayed rectifier potassium channel critical for neuronal excitability.
| Property | Value |
|---|---|
| Gene Symbol | KCNB1 |
| Full Name | Potassium Voltage-Gated Channel Subfamily B Member 1 |
| Chromosomal Location | 20q13.13 |
| NCBI Gene ID | 3745 |
| Ensembl ID | ENSG00000158445 |
| UniProt | Q14721 |
The KCNB1 gene encodes Kv2.1, a prominent delayed rectifier potassium channel:
Kv2.1 channels regulate:
| Disease | Association Type | Key Evidence |
|---|---|---|
| Epilepsy | Causative | KCNB1 mutations cause developmental and epileptic encephalopathy |
| Autism Spectrum Disorder | Risk Modulator | De novo mutations found in ASD patients |
| Alzheimer's Disease | Risk Modulator | Altered Kv2.1 expression and function in AD |
| Schizophrenia | Risk Modulator | Altered expression in prefrontal cortex |
KCNB1 shows widespread expression:
Kcnb1 Gene plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.
The study of Kcnb1 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.
[1] Rudy B, et al. J Neurosci 1999;19:106-117