RAB7A — RAB7A, Member RAS Oncogene Family
Pathway Diagram
Mermaid diagram (expand to render)
Overview
Rab7A — Rab7A, Member Ras Oncogene Family plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.
Introduction
Rab7A — Rab7A, Member Ras Oncogene Family is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes. [@kawaguchi2013]
<div class="infobox infobox-gene"> [@song2016]
<table>
<tr><th colspan="2" style="background:#e8f4f8; text-align:center; font-size:1.1em;">RAB7A, Member RAS Oncogene Family</th></tr>
<tr><td><strong>Gene Symbol</strong></td><td>RAB7A</td></tr>
<tr><td><strong>Full Name</strong></td><td>RAB7A, Member RAS Oncogene Family</td></tr>
<tr><td><strong>Chromosome</strong></td><td>3q21</td></tr>
<tr><td><strong>NCBI Gene ID</strong></td><td>[7879](https://www.ncbi.nlm.nih.gov/gene/7879)</td></tr>
<tr><td><strong>OMIM</strong></td><td>602298</td></tr>
<tr><td><strong>Ensembl ID</strong></td><td>ENSG00000175756</td></tr>
<tr><td><strong>UniProt ID</strong></td><td>[P51149](https://www.uniprot.org/uniprot/P51149)</td></tr>
<tr><td><strong>Associated Diseases</strong></td><td>Charcot-Marie-Tooth Disease Type 2B, Parkinson's Disease, Alzheimer's Disease</td></tr>
</table>
</div>
Function
RAB7A encodes a small GTPase that regulates late endosomal trafficking and lysosomal function. RAB7A cycles between active (GTP-bound) and inactive (GDP-bound) states, with GDP-bound RAB7A being cytosolic and GTP-bound RAB7A associating with late endosomal membranes. RAB7A is essential for late endosome-lysosome fusion, autophagosome-lysosome fusion (late-stage autophagy), and transport from early to late endosomes. In [neurons](/entities/neurons), RAB7A plays critical roles in retrograde axonal transport, neurotrophin signaling, and synaptic function. Mutations cause Charcot-Marie-Tooth disease type 2B (CMT2B), and dysregulation of RAB7A function is implicated in Parkinson's disease and Alzheimer's disease through effects on protein clearance and neuronal viability.
Expression
RAB7A is ubiquitously expressed with high levels in:
- Dorsal root ganglion neurons
- [Hippocampus](/brain-regions/hippocampus)
- Cerebral [cortex](/brain-regions/cortex)
- Substantia nigra (dopaminergic neurons)
- Cerebellum
Essential for neuronal survival and function throughout the nervous system.
Disease Associations
| Disease | Role | Mechanism |
|---------|------|-----------|
| Alzheimer's Disease | Risk/Progression | Various mechanisms depending on gene function |
| Parkinson's Disease | Risk/Progression | Various mechanisms depending on gene function |
| Amyotrophic Lateral Sclerosis | Risk/Progression | Various mechanisms depending on gene function |
Therapeutic Implications
Targeting RAB7A has therapeutic potential in neurodegenerative diseases through:
- Gene therapy approaches for loss-of-function variants
- Small molecule modulators of protein function
- Protein supplementation strategies
Key Publications
Bucci C, et al. (2000). "RAB7 in endocytic trafficking." Cell. PMID: 11027285(https://pubmed.ncbi.nlm.nih.gov/11027285/)
McCray BA, et al. (2010). "RAB7 mutations cause CMT2B." Nat Genet. PMID: 20445436(https://pubmed.ncbi.nlm.nih.gov/20445436/)
Kawaguchi Y, et al. (2013). "RAB7 in neuronal [autophagy](/entities/autophagy)." Autophagy. PMID: 23575214(https://pubmed.ncbi.nlm.nih.gov/23575214/)
Song P, et al. (2016). "RAB7 and neurodegeneration." Mol Neurobiol. PMID: 26957130(https://pubmed.ncbi.nlm.nih.gov/26957130/)See Also
- [Autophagy](/mechanisms/autophagy)
- [Axonal Transport](/mechanisms/axonal-transport)
- [Amyotrophic Lateral Sclerosis](/diseases/amyotrophic-lateral-sclerosis)
- [Alzheimer's Disease](/diseases/alzheimers-disease)
- [Parkinson's Disease](/diseases/parkinsons-disease)
Overview
Rab7A — Rab7A, Member Ras Oncogene Family plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.
Background
The study of Rab7A — Rab7A, Member Ras Oncogene Family 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.
External Links
- [PubMed](https://pubmed.ncbi.nlm.nih.gov/) - Biomedical literature
- [Alzheimer's Disease Neuroimaging Initiative](https://adni.loni.usc.edu/) - Research data
- [Allen Brain Atlas](https://brain-map.org/) - Brain gene expression data
References
[McCray BA, et al, (2010) (2010)](https://pubmed.ncbi.nlm.nih.gov/20445436/)
[Kawaguchi Y, et al, (2013) (2013)](https://pubmed.ncbi.nlm.nih.gov/23575214/)
[Song P, et al, (2016) (2016)](https://pubmed.ncbi.nlm.nih.gov/26957130/)From the [SciDEX Exchange](/exchange) — scored by multi-agent debate
- [Mitochondrial-Lysosomal Contact Site Engineering](/hypothesis/h-0791836f) — <span style="color:#ffd54f;font-weight:600">0.41</span> · Target: RAB7A
Pathway Diagram
The following diagram shows the key molecular relationships involving RAB7A — RAB7A, Member RAS Oncogene Family discovered through SciDEX knowledge graph analysis:
Mermaid diagram (expand to render)