Pathway Diagram
flowchart TD
RAB7A["RAB7A<br/>GTPase Protein"]
LIPOPHAGY["LIPOPHAGY<br/>Lipid Autophagy<br/>Pathway"]
LATE_ENDO["Late Endosome<br/>Maturation"]
AUTOPHAGOSOME["Autophagosome<br/>Formation"]
LYSOSOME["Lysosomal<br/>Fusion"]
ALZHEIMER["Alzheimer's<br/>Disease"]
ALS["Amyotrophic Lateral<br/>Sclerosis (ALS)"]
TAUOPATHY["Tauopathy"]
MS["Multiple<br/>Sclerosis"]
INFLAMMATION["Neuroinflammation"]
ISCHEMIA["Ischemic<br/>Injury"]
PROTEIN_AGG["Protein<br/>Aggregation"]
NEURONAL_DEATH["Neuronal<br/>Death"]
THERAPEUTIC["Therapeutic<br/>Target"]
RAB7A -->|"mediates"| LIPOPHAGY
RAB7A -->|"regulates"| LATE_ENDO
RAB7A -->|"promotes"| AUTOPHAGOSOME
RAB7A -->|"facilitates"| LYSOSOME
RAB7A -->|"activates"| ALZHEIMER
RAB7A -->|"activates"| ALS
RAB7A -->|"activates"| TAUOPATHY
RAB7A -->|"regulates"| MS
RAB7A -->|"regulates"| INFLAMMATION
RAB7A -->|"regulates"| ISCHEMIA
LATE_ENDO -->|"leads to"| PROTEIN_AGG
INFLAMMATION -->|"contributes to"| NEURONAL_DEATH
PROTEIN_AGG -->|"causes"| NEURONAL_DEATH
ALZHEIMER --> NEURONAL_DEATH
ALS --> NEURONAL_DEATH
TAUOPATHY --> NEURONAL_DEATH
RAB7A -->|"potential"| THERAPEUTIC
style RAB7A fill:#006494
style LIPOPHAGY fill:#1b5e20
style LATE_ENDO fill:#1b5e20
style AUTOPHAGOSOME fill:#1b5e20
style LYSOSOME fill:#1b5e20
style ALZHEIMER fill:#ef5350
style ALS fill:#ef5350
style TAUOPATHY fill:#ef5350
style MS fill:#ef5350
style INFLAMMATION fill:#ef5350
style ISCHEMIA fill:#ef5350
style PROTEIN_AGG fill:#ef5350
style NEURONAL_DEATH fill:#5d4400
style THERAPEUTIC fill:#1b5e20Overview
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. 3(2013)Open reference
| RAB7A, Member RAS Oncogene Family | |
|---|---|
| Gene Symbol | RAB7A |
| Full Name | RAB7A, Member RAS Oncogene Family |
| Chromosome | 3q21 |
| NCBI Gene ID | [7879](https://www.ncbi.nlm.nih.gov/gene/7879) |
| OMIM | 602298 |
| Ensembl ID | ENSG00000175756 |
| UniProt ID | [P51149](https://www.uniprot.org/uniprot/P51149) |
| Associated Diseases | Charcot-Marie-Tooth Disease Type 2B, Parkinson's Disease, Alzheimer's Disease |
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, 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
-
Cerebral 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. 1CitationOpen reference(https://pubmed.ncbi.nlm.nih.gov/11027285/)
-
McCray BA, et al. (2010). “RAB7 mutations cause CMT2B.” Nat Genet. 2(2010)Open reference(https://pubmed.ncbi.nlm.nih.gov/20445436/)
-
Kawaguchi Y, et al. (2013). “RAB7 in neuronal autophagy.” Autophagy. 3(2013)Open reference(https://pubmed.ncbi.nlm.nih.gov/23575214/)
-
Song P, et al. (2016). “RAB7 and neurodegeneration.” Mol Neurobiol. 4(2016)Open reference(https://pubmed.ncbi.nlm.nih.gov/26957130/)
See Also
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 - Biomedical literature
-
Alzheimer’s Disease Neuroimaging Initiative - Research data
-
Allen Brain Atlas - Brain gene expression data
References
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