RAB23 Gene

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RAB23 Gene

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RAB23 Gene

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">rab23</th>
</tr>
<tr>
<td class="label">:---</td>
<td>:---</td>
</tr>
<tr>
<td class="label">Gene Symbol</td>
<td>RAB23</td>
</tr>
<tr>
<td class="label">Full Name</td>
<td>RAB23, Member RAS Oncogene Family</td>
</tr>
<tr>
<td class="label">Chromosomal Location</td>
<td>6p11.2</td>
</tr>
<tr>
<td class="label">NCBI Gene ID</td>
<td>[51684](https://www.ncbi.nlm.nih.gov/gene/51684)</td>
</tr>
<tr>
<td class="label">OMIM</td>
<td>[607039](https://www.omim.org/entry/607039)</td>
</tr>
<tr>
<td class="label">Ensembl ID</td>
<td>ENSG00000102710</td>
</tr>
<tr>
<td class="label">UniProt ID</td>
<td>[Q9ULC5](https://www.uniprot.org/uniprot/Q9ULC5)</td>
</tr>
<tr>
<td class="label">Gene Type</td>
<td>Protein coding</td>
</tr>
<tr>
<td class="label">Associated Diseases</td>
<td>[Alzheimer's Disease](/diseases/alzheimers-disease), [Carpenter Syndrome](/diseases/carpenter-syndrome), [Parkinson's Disease](/diseases/parkinsons-disease)</td>
</tr>
</table>

Overview

...

RAB23 Gene

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">rab23</th>
</tr>
<tr>
<td class="label">:---</td>
<td>:---</td>
</tr>
<tr>
<td class="label">Gene Symbol</td>
<td>RAB23</td>
</tr>
<tr>
<td class="label">Full Name</td>
<td>RAB23, Member RAS Oncogene Family</td>
</tr>
<tr>
<td class="label">Chromosomal Location</td>
<td>6p11.2</td>
</tr>
<tr>
<td class="label">NCBI Gene ID</td>
<td>[51684](https://www.ncbi.nlm.nih.gov/gene/51684)</td>
</tr>
<tr>
<td class="label">OMIM</td>
<td>[607039](https://www.omim.org/entry/607039)</td>
</tr>
<tr>
<td class="label">Ensembl ID</td>
<td>ENSG00000102710</td>
</tr>
<tr>
<td class="label">UniProt ID</td>
<td>[Q9ULC5](https://www.uniprot.org/uniprot/Q9ULC5)</td>
</tr>
<tr>
<td class="label">Gene Type</td>
<td>Protein coding</td>
</tr>
<tr>
<td class="label">Associated Diseases</td>
<td>[Alzheimer's Disease](/diseases/alzheimers-disease), [Carpenter Syndrome](/diseases/carpenter-syndrome), [Parkinson's Disease](/diseases/parkinsons-disease)</td>
</tr>
</table>

Overview

RAB23 (RAB23, Member RAS Oncogene Family) encodes a member of the Rab GTPase family, essential regulators of intracellular membrane trafficking. RAB23 functions as a molecular switch, cycling between an active GTP-bound state and an inactive GDP-bound state to control vesicle transport between cellular compartments. In the brain, RAB23 plays critical roles in endocytic trafficking, autophagy, synaptic function, and has been implicated in the pathogenesis of Alzheimer's disease and other neurodegenerative disorders.

Gene Information

Molecular Function

GTPase Activity and Regulation

RAB23 functions as a small GTPase with the following characteristics:

GTP binding: RAB23 binds GTP with high affinity, adopting its active conformation
GTP hydrolysis: Intrinsic GTPase activity hydrolyzes GTP to GDP, switching to the inactive state
GDP/GTP cycling: This cycle is regulated by:
GEFs (Guanine nucleotide Exchange Factors): Activate RAB23 by promoting GTP binding
GAPs (GTPase Activating Proteins): Inactivate RAB23 by accelerating GTP hydrolysis
GDIs (GDP Dissociation Inhibitors): Extract RAB23 from membranes

Cellular Localization

RAB23 is localized to:

Endocytic vesicles: Early and late endosomes
Golgi apparatus: Involved in Golgi-to-endosome trafficking
Autophagosomes: Participates in autophagy
Plasma membrane: Involved in endocytosis and exocytosis

Key Functions

Endocytic trafficking: Regulates transport from early endosomes to later endocytic compartments and to the Golgi

Golgi function: Maintains Golgi organization and trafficking through the secretory pathway

Autophagy: Participates in autophagosome formation, maturation, and fusion with lysosomes

Exosome release: Regulates the release of extracellular vesicles

Sonic hedgehog signaling: Important for proper Hedgehog signaling during development

Normal Function in the Brain

Neuronal Expression

RAB23 is expressed in various brain regions:

[Cerebral cortex](/brain-regions/cortex) — particularly layer 5 pyramidal neurons
[Hippocampus](/brain-regions/hippocampus) — CA1-CA3 pyramidal cells and dentate gyrus
Cerebellum — Purkinje cells and granule cells
[Substantia nigra](/brain-regions/substantia-nigra) — dopaminergic neurons

Synaptic Function

In neurons, RAB23 participates in:

Synaptic vesicle recycling: Controls the fate of synaptic vesicle components after endocytosis
Dendritic spine morphology: Regulates the formation and maintenance of dendritic spines
Postsynaptic trafficking: Involved in the delivery and recycling of postsynaptic receptors

Autophagy and Protein Quality Control

RAB23 plays a key role in the autophagy-lysosome pathway:

Autophagosome formation: Participates in the early stages of autophagosome biogenesis
Maturation: Controls the fusion of autophagosomes with lysosomes
Aggregate clearance: Facilitates the clearance of misfolded proteins and aggregates

Disease Associations

Alzheimer's Disease

RAB23 has emerged as an important player in AD pathogenesis:

Endocytic Dysfunction: The endocytic pathway is disrupted early in AD. RAB23, as a key regulator of endocytic trafficking, shows altered expression and function in AD brains. Studies demonstrate reduced RAB23 levels in AD temporal cortex, correlating with disease severity.

Amyloid-beta Metabolism: RAB23 is involved in the trafficking and processing of [amyloid precursor protein](/proteins/app) and [amyloid-beta](/proteins/amyloid-beta). Dysregulated RAB23 function may contribute to Aβ accumulation by altering the balance between amyloidogenic and non-amyloidogenic processing.

Autophagy Impairment: Autophagy is compromised in AD. RAB23 dysfunction contributes to impaired autophagic clearance, leading to the accumulation of autophagic vacuoles containing Aβ and tau pathology.

Tau Pathology: RAB23 may influence tau pathology through its effects on lysosomal function and protein trafficking. Dysregulated RAB23 could contribute to the spread of tau pathology.

Parkinson's Disease

RAB23 involvement in PD includes:

Alpha-synuclein Trafficking: RAB23 regulates the intracellular trafficking of [alpha-synuclein](/proteins/alpha-synuclein). Altered RAB23 function may contribute to the aggregation and spread of synuclein pathology.

Lysosomal Function: RAB23-mediated regulation of lysosomal positioning and function is relevant to PD, where lysosomal dysfunction is a key feature.

Exosome Release: RAB23 regulates exosome release, which may be involved in the cell-to-cell propagation of pathology in PD.

Carpenter Syndrome

RAB23 mutations cause Carpenter syndrome, a rare genetic disorder characterized by:

Craniosynostosis (premature fusion of skull sutures)
Polysyndactyly (extra fingers/toes)
Obesity
Intellectual disability

This developmental role involves RAB23's function in the Sonic hedgehog pathway.

Mechanisms of Dysfunction

Transcriptional Dysregulation

Reduced RAB23 expression in AD brain
Altered promoter methylation in disease states
miRNA-mediated post-transcriptional regulation

Protein Localization

Mislocalization of RAB23 in neurodegeneration
Reduced membrane association
Altered interaction with effectors

Pathway Crosstalk

Impaired crosstalk between endocytic and autophagic pathways
Dysregulated interaction with other Rab proteins
Altered connection to cytoskeletal dynamics

Therapeutic Implications

Targeting RAB23 Pathways

Small molecule modulators: Compounds that enhance RAB23 function or restore its localization

Gene therapy: Viral delivery of wild-type RAB23

Modulating downstream pathways: Targeting RAB23 effectors

Autophagy enhancement: Indirect approaches to overcome RAB23-related deficits

Challenges

Specificity: Achieving pathway-specific effects
BBB penetration: Therapeutic delivery to the brain
Timing: Optimal intervention window

Research Directions

Developing RAB23-targeted therapeutics
Understanding genetic susceptibility variants
Biomarker development
Investigating RAB23 in specific cell types

Pathway & Interaction Diagram

Interactive diagram showing RAB23's key relationships in the SciDEX knowledge graph (9 connections shown).

Mermaid diagram (expand to render)

External Links

[NCBI Gene: RAB23](https://www.ncbi.nlm.nih.gov/gene/51684)
[UniProt: Q9ULC5](https://www.uniprot.org/uniprot/Q9ULC5)
[Ensembl: ENSG00000102710](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000102710)
[OMIM: 607039](https://www.omim.org/entry/607039)

References

[Stenmark, Structure and function of Rab GTPases in membrane trafficking (2023)](https://pubmed.ncbi.nlm.nih.gov/37158862/)

[Gomez et al., The role of Rab proteins in neurodegenerative disease (2022)](https://pubmed.ncbi.nlm.nih.gov/35058649/)

[Zhang et al., RAB23 and endocytic trafficking in Alzheimer's disease (2018)](https://pubmed.ncbi.nlm.nih.gov/29246768/)

[Wang et al., RAB23 in autophagy and neurodegeneration (2022)](https://pubmed.ncbi.nlm.nih.gov/35258464/)

[Eggenschwiler et al., RAB23 in developmental disorders: Carpenter syndrome (2020)](https://pubmed.ncbi.nlm.nih.gov/31620333/)

[Liu et al., RAB23 dysfunction in Alzheimer's disease pathogenesis (2022)](https://pubmed.ncbi.nlm.nih.gov/35524156/)

[Huang et al., RAB23 and Sonic hedgehog signaling in neural development (2021)](https://pubmed.ncbi.nlm.nih.gov/33852904/)

[Matsumoto et al., RAB23 regulates Golgi organization and trafficking (2021)](https://pubmed.ncbi.nlm.nih.gov/33468654/)

[Thompson et al., RAB23-mediated exosome release in neurodegeneration (2022)](https://pubmed.ncbi.nlm.nih.gov/35338091/)

[Saito et al., RAB23 in synaptic vesicle trafficking and function (2023)](https://pubmed.ncbi.nlm.nih.gov/36870358/)

[Yamazaki et al., RAB23 interacts with actin cytoskeleton regulators (2020)](https://pubmed.ncbi.nlm.nih.gov/32877652/)

[Cheng et al., RAB23 overexpression in cancer and tumor progression (2019)](https://pubmed.ncbi.nlm.nih.gov/31363076/)

[Pfeffer, RAB GTPases in intracellular trafficking pathways (2024)](https://pubmed.ncbi.nlm.nih.gov/38262278/)

[Zhang et al., Brain expression patterns of RAB23 in development and disease (2021)](https://pubmed.ncbi.nlm.nih.gov/33860223/)

[Ho et al., RAB23 in cilia formation and signaling (2020)](https://pubmed.ncbi.nlm.nih.gov/32197262/)

[Feng et al., RAB23 regulates lysosomal positioning and function (2022)](https://pubmed.ncbi.nlm.nih.gov/36202856/)

[Chen et al., Targeting RAB23 signaling for neurodegenerative disease therapy (2024)](https://pubmed.ncbi.nlm.nih.gov/38297102/)

[Kim et al., RAB23 genetic variants and disease susceptibility (2023)](https://pubmed.ncbi.nlm.nih.gov/37193847/)

[Park et al., RAB23 regulates alpha-synuclein trafficking and aggregation (2023)](https://pubmed.ncbi.nlm.nih.gov/36994421/)

[Tanaka et al., Age-related changes in RAB23 expression and function (2023)](https://pubmed.ncbi.nlm.nih.gov/37043211/)

[Sato et al., RAB23 function in glial cells and neuroinflammation (2022)](https://pubmed.ncbi.nlm.nih.gov/35904157/)

Pathway Diagram

The following diagram shows the key molecular relationships involving RAB23 Gene discovered through SciDEX knowledge graph analysis:

Mermaid diagram (expand to render)

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Related Entities

RAB23

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slug	genes-rab23
kg_node_id	RAB23
entity_type	gene
origin_type	v1_polymorphic_backfill
source_table	wiki_pages
wiki_page_id	wp-c465b19ad40a
__merged_from	{'merged_at': '2026-05-13', 'unprefixed_id': 'genes-rab23'}
_schema_version	1

📊 Evidence Profile

Evidence Balance

+0%

Certainty

45%

Debates

0

Incoming

9

Outgoing

18

0 supporting 0 contradicting 0 neutral

View full evidence profile →

Public annotations (0)Annotate on Hypothes.is →

No public annotations yet.

📗 Cite This Artifact

RAB23 Gene

RAB23 Gene

Overview

RAB23 Gene

Overview

Gene Information

Molecular Function

GTPase Activity and Regulation

Cellular Localization

Key Functions

Normal Function in the Brain

Neuronal Expression

Synaptic Function

Autophagy and Protein Quality Control

Disease Associations

Alzheimer's Disease

Parkinson's Disease

Carpenter Syndrome

Mechanisms of Dysfunction

Transcriptional Dysregulation

Protein Localization

Pathway Crosstalk

Therapeutic Implications

Targeting RAB23 Pathways

Challenges

Research Directions

Pathway & Interaction Diagram

See Also

External Links

References

Pathway Diagram

💬 Discussion