GDI2 (GDP Dissociation Inhibitor 2) is a regulatory protein that controls the cycling of RAB GTPases between their active GTP-bound and inactive GDP-bound states. GDI2 is essential for proper vesicular trafficking and has been implicated in neurodegenerative diseases through its role in regulating RAB-mediated protein transport.
| GDP Dissociation Inhibitor 2 | |
|---|---|
| Gene Symbol | GDI2 |
| Full Name | GDP Dissociation Inhibitor 2 |
| Chromosome | 10p15.3 |
| NCBI Gene ID | 9665 |
| OMIM | 602134 |
| Ensembl ID | ENSG00000123136 |
| UniProt ID | P50395 |
| Associated Diseases | Alzheimer's Disease, Parkinson's Disease, Neurodegeneration |
GDI2 encodes a member of the GDP Dissociation Inhibitor family that regulates RAB GTPase cycling. GDIs extract RAB GTPases from membranes and maintain them in an inactive, GDP-bound state in the cytosol. GDI2 is ubiquitously expressed and plays essential roles in regulating vesicular trafficking pathways. It controls the cycling of RAB proteins between active (GTP-bound) and inactive (GDP-bound) states, which is critical for proper vesicular transport, autophagy, and synaptic function.
Ubiquitously expressed with high levels in brain. In neurons, GDI2 regulates RAB-mediated trafficking essential for synaptic function and protein aggregate clearance.
| Disease | Variants | Inheritance | Mechanism |
|---|---|---|---|
| Alzheimer's Disease | Various | Risk factor | Dysregulated RAB cycling |
| Parkinson's Disease | Various | Risk factor | Impaired vesicular function |
| Neurodegeneration | Various | Risk factor | General trafficking defects |