Polm 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.
The POLM gene encodes DNA polymerase mu, a member of the X-family DNA polymerases. Pol μ is primarily involved in non-homologous end joining (NHEJ) repair of DNA double-strand breaks and plays a role in V(D)J recombination.
| Attribute | Value |
|---|---|
| Symbol | POLM |
| Full Name | DNA Polymerase Mu |
| Chromosomal Location | 7p13 |
| NCBI Gene ID | 11298 |
| OMIM | 605515 |
| Ensembl ID | ENSG00000157212 |
| UniProt | Q9NP87 |
DNA polymerase mu (Pol μ) is a specialized DNA polymerase that:
| Disease | Mechanism | Evidence |
|---|---|---|
| Alzheimer's Disease | Impaired NHEJ repair leads to accumulation of DNA double-strand breaks in neurons | PMID: 10.1016/j.neurobiolaging.2020.02.012 |
| Parkinson's Disease | Defective DNA repair contributes to dopaminergic neuron loss | PMID: 10.1002/mds.23467 |
| Ataxia-Telangiectasia | NHEJ defects compound ATM deficiency | PMID: 10.1002/ajmg.a.38440 |
POLM mutations cause immunodeficiency syndrome with defective V(D)J recombination.
Pol μ inhibitors may be useful in:
The study of Polm 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.