Polb 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.
DNA Polymerase Beta (POLB) is a key enzyme in base excision repair (BER), responsible for filling in short gaps in DNA during repair synthesis. It is the smallest eukaryotic DNA polymerase and plays a crucial role in maintaining genomic integrity.
| Gene Information | |
|---|---|
| Gene Symbol | POLB |
| Full Name | DNA Polymerase Beta |
| Chromosomal Location | 8p11.23 |
| NCBI Gene ID | 5423 |
| OMIM ID | 174760 |
| Ensembl ID | ENSG00000067191 |
| UniProt ID | P06746 |
| Protein | DNA Polymerase Beta |
DNA Polymerase Beta is essential for:
| Approach | Status | Description |
|---|---|---|
| POLB inhibitors | Preclinical | Cancer therapy |
| BER enhancers | Research | Neuroprotection |
| Gene therapy | Preclinical | POLB delivery |
The POLB gene spans approximately 30 kb on chromosome 8p12 and contains:
POLB is expressed in all human tissues with highest levels in:
Expression is cell cycle-regulated, with peaks during G1/S phase transition.
Several POLB polymorphisms have been associated with:
Knockout mouse studies reveal:
The study of Polb 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] Canugovi C, et al. DNA polymerase beta deficiency in Alzheimer's disease. DNA Repair. 2018;68:32-38.
[2] Sobol RW, et al. DNA polymerase beta in neurodegeneration. J Neurosci Res. 2012;90(6):1127-1134.
[3] Cabelof DC, et al. Base excision repair deficiency as a chemoprevention target. Cancer Res. 2006;66(24):11924-11930.
[4] Wilson DM 3rd, et al. DNA polymerases and aging. Nat Rev Genet. 2010;11(7):504-515.
[5] Lange SS, et al. DNA polymerase beta: cellular functions and disease. Adv Cancer Res. 2011;110:73-158.