RAB9A (RAB GTPase 9A) is a member of the RAB GTPase family involved in late endosomal trafficking and lysosomal function. RAB9A facilitates the transport of mannose-6-phosphate receptors between the Golgi and endosomes, playing a critical role in cellular degradation pathways relevant to neurodegeneration.
| RAB GTPase 9A | |
|---|---|
| Gene Symbol | RAB9A |
| Full Name | RAB GTPase 9A |
| Chromosome | Xp22.33 |
| NCBI Gene ID | 10184 |
| OMIM | 300280 |
| Ensembl ID | ENSG00000123595 |
| UniProt ID | P51153 |
| Associated Diseases | Parkinson's Disease, Lysosomal Storage Disorders |
RAB9A encodes a member of the RAB GTPase family that primarily functions in late endosomal trafficking and lysosome function. RAB9A regulates the transport of mannose-6-phosphate receptors from late endosomes to the trans-Golgi network, facilitating the delivery of hydrolytic enzymes to lysosomes. This function is critical for lysosomal biogenesis and cellular waste degradation. In neurons, proper lysosomal function is essential for autophagy and the clearance of protein aggregates, processes that are disrupted in neurodegenerative diseases.
Ubiquitously expressed with high levels in brain. In neurons, RAB9A is involved in maintaining lysosomal function essential for aggregate clearance.
| Disease | Variants | Inheritance | Mechanism |
|---|---|---|---|
| Parkinson's Disease | Risk variants | Complex | Impaired lysosomal trafficking |
| Lysosomal Storage Disorders | Various | Various | Primary defect in lysosomal function |