RAB2A (RAB GTPase 2A) is a small GTPase involved in intracellular vesicle trafficking, particularly in the ER-to-Golgi transport pathway. RAB2A plays essential roles in neuronal function by regulating synaptic vesicle formation and protein sorting. Dysregulation of RAB2A has been linked to neurodegenerative processes and neurodevelopmental disorders.
| RAB GTPase 2A | |
|---|---|
| Gene Symbol | RAB2A |
| Full Name | RAB GTPase 2A |
| Chromosome | 11p15.5 |
| NCBI Gene ID | 5863 |
| OMIM | 614512 |
| Ensembl ID | ENSG00000118890 |
| UniProt ID | P61019 |
| Associated Diseases | Alzheimer's Disease, Parkinson's Disease, Synaptic Dysfunction |
RAB2A is a small GTPase that plays a critical role in endoplasmic reticulum-to-Golgi trafficking and within the Golgi apparatus. It regulates the formation and movement of transport vesicles between ER and Golgi compartments. In neurons, RAB2A is essential for synaptic vesicle precursor formation and neurotransmitter release. RAB2A has been implicated in Alzheimer's disease through its role in APP (Amyloid Precursor Protein) processing and trafficking, potentially influencing amyloid-beta production.
High expression in brain, particularly in hippocampal neurons and cortical pyramidal cells. Also expressed in neuroendocrine cells and secretory tissues.
| Disease | Variants | Inheritance | Mechanism |
|---|---|---|---|
| Alzheimer's Disease | Risk variants | Complex | Altered APP trafficking |
| Parkinson's Disease | Various | Risk factor | Impaired vesicular function |
| Neurodevelopmental Disorders | Variants | Autosomal | Synaptic vesicle defects |