RAB7A — RAB7A, Member RAS Oncogene Family

gene · SciDEX wiki

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:#1b5e20

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. 3(2013)2013 · PMID 23575214Open reference

4(2016)2016 · PMID 26957130Open reference
RAB7A, Member RAS Oncogene Family
Gene SymbolRAB7A
Full NameRAB7A, Member RAS Oncogene Family
Chromosome3q21
NCBI Gene ID[7879](https://www.ncbi.nlm.nih.gov/gene/7879)
OMIM602298
Ensembl IDENSG00000175756
UniProt ID[P51149](https://www.uniprot.org/uniprot/P51149)
Associated DiseasesCharcot-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

  • Hippocampus

  • 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

  1. Bucci C, et al. (2000). “RAB7 in endocytic trafficking.” Cell. 1CitationPMID 11027285Open reference(https://pubmed.ncbi.nlm.nih.gov/11027285/)

  2. McCray BA, et al. (2010). “RAB7 mutations cause CMT2B.” Nat Genet. 2(2010)2010 · PMID 20445436Open reference(https://pubmed.ncbi.nlm.nih.gov/20445436/)

  3. Kawaguchi Y, et al. (2013). “RAB7 in neuronal autophagy.” Autophagy. 3(2013)2013 · PMID 23575214Open reference(https://pubmed.ncbi.nlm.nih.gov/23575214/)

  4. Song P, et al. (2016). “RAB7 and neurodegeneration.” Mol Neurobiol. 4(2016)2016 · PMID 26957130Open 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.

References

  1. PMID:11027285 PMID 11027285
  2. (2010) McCray BA, et al 2010 · PMID 20445436
  3. (2013) Kawaguchi Y, et al 2013 · PMID 23575214
  4. (2016) Song P, et al 2016 · PMID 26957130

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