| APEX2 | |
|---|---|
| Full Name | Apurinic/Apyrimidinic Endodeoxyribonuclease 2 |
| Category | Gene |
| Path | /genes/apex2 |
APEX2 (Apurinic/Apyrimidinic Endodeoxyribonuclease 2) encodes a DNA repair enzyme that plays a critical role in the base excision repair (BER) pathway. APEX2 is a mitochondrial and nuclear protein that recognizes and cleaves apurinic/apyrimidinic (AP) sites - potentially lethal DNA lesions generated spontaneously or through oxidative damage. Given the high metabolic rate and oxygen consumption of neurons, APEX2-mediated DNA repair is particularly important for neuronal survival and has been implicated in Alzheimer's disease, Parkinson's disease, amyotrophic lateral sclerosis, and Huntington's disease.
| Attribute | Value |
|---|---|
| Symbol | APEX2 |
| Full Name | Apurinic/Apyrimidinic Endodeoxyribonuclease 2 |
| Chromosome | 11p13 |
| NCBI Gene ID | 27351 |
| OMIM ID | 607538 |
| UniProt ID | Q9GZL2 |
| Ensembl ID | ENSG00000164073 |
APEX2 is a ~57 kDa protein with the following functional characteristics:
APEX2 functions in the base excision repair pathway:
APEX2 is expressed in various brain regions with both nuclear and mitochondrial localization:
The mitochondrial localization is particularly important in neurons due to:
APEX2 is implicated in Alzheimer's disease through:
APEX2 involvement in ALS:
APEX2 represents a potential therapeutic target: