GJA1

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GJA1

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GJA1

Overview

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">GJA1</th>
</tr>
<tr>
<td class="label">Symbol</td>
<td>GJA1</td>
</tr>
<tr>
<td class="label">Full Name</td>
<td>Gap Junction Protein Alpha 1</td>
</tr>
<tr>
<td class="label">Alias</td>
<td>Connexin 43 (Cx43)</td>
</tr>
<tr>
<td class="label">Chromosomal Location</td>
<td>6q22.31</td>
</tr>
<tr>
<td class="label">NCBI Gene ID</td>
<td>2697</td>
</tr>
<tr>
<td class="label">OMIM ID</td>
<td>121014</td>
</tr>
<tr>
<td class="label">Ensembl ID</td>
<td>ENSG00000152661</td>
</tr>
<tr>
<td class="label">UniProt ID</td>
<td>P17302</td>
</tr>
<tr>
<td class="label">Associated Diseases</td>
<td><a href="/wiki/als" style="color:#ef9a9a">ALS</a>, <a href="/wiki/als" style="color:#ef9a9a">Als</a>, <a href="/wiki/alzheimer" style="color:#ef9a9a">Alzheimer</a>, <a href="/wiki/alzheimer's-disease" style="color:#ef9a9a">Alzheimer's Disease</a>, <a href="/wiki/arthritis" style="color:#ef9a9a">Arthritis</a></td>
</tr>
<tr>
<td class="label">SciDEX Hypotheses</td>
<td><a href="/hypothesis/h-16ee87a4" style="color:#ce93d8" title="Score: 0.63">Astrocytic Connexin-43 Upregulation Enha...</a><br><a href="/hypothesis/h-3a901ec3" style="color:#ce93d8" title="Score: 0.48">Astroglial Gap Junction Coordination via...</a><br><a href="/hypothesis/h-13ef5927" style="color:#ce93d8" title="Score: 0.41">CX43 hemichannel engineering enables siz...</a><

...

GJA1

Overview

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">GJA1</th>
</tr>
<tr>
<td class="label">Symbol</td>
<td>GJA1</td>
</tr>
<tr>
<td class="label">Full Name</td>
<td>Gap Junction Protein Alpha 1</td>
</tr>
<tr>
<td class="label">Alias</td>
<td>Connexin 43 (Cx43)</td>
</tr>
<tr>
<td class="label">Chromosomal Location</td>
<td>6q22.31</td>
</tr>
<tr>
<td class="label">NCBI Gene ID</td>
<td>2697</td>
</tr>
<tr>
<td class="label">OMIM ID</td>
<td>121014</td>
</tr>
<tr>
<td class="label">Ensembl ID</td>
<td>ENSG00000152661</td>
</tr>
<tr>
<td class="label">UniProt ID</td>
<td>P17302</td>
</tr>
<tr>
<td class="label">Associated Diseases</td>
<td><a href="/wiki/als" style="color:#ef9a9a">ALS</a>, <a href="/wiki/als" style="color:#ef9a9a">Als</a>, <a href="/wiki/alzheimer" style="color:#ef9a9a">Alzheimer</a>, <a href="/wiki/alzheimer's-disease" style="color:#ef9a9a">Alzheimer's Disease</a>, <a href="/wiki/arthritis" style="color:#ef9a9a">Arthritis</a></td>
</tr>
<tr>
<td class="label">SciDEX Hypotheses</td>
<td><a href="/hypothesis/h-16ee87a4" style="color:#ce93d8" title="Score: 0.63">Astrocytic Connexin-43 Upregulation Enha...</a><br><a href="/hypothesis/h-3a901ec3" style="color:#ce93d8" title="Score: 0.48">Astroglial Gap Junction Coordination via...</a><br><a href="/hypothesis/h-13ef5927" style="color:#ce93d8" title="Score: 0.41">CX43 hemichannel engineering enables siz...</a></td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">227 edges</a></td>
</tr>
</table>

Pathway Diagram

Mermaid diagram (expand to render)

Gja1 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

Gja1 is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes. [@nakase2020]

GJA1 encodes Connexin-43 (Cx43), the most abundant gap junction protein in the mammalian brain. Gap junctions allow direct intercellular communication by permitting the passage of ions, small molecules, and second messengers between adjacent cells. [@sinyuk2018]

Gene Overview

Function

Connexin-43 is a 43 kDa transmembrane protein that assembles into hexameric hemichannels (connexons). When two hemichannels from adjacent cells dock, they form a complete gap junction channel. Each gap junction channel allows the passage of molecules up to ~1 kDa, including ions (Ca²⁺, Na⁺, K⁺), cyclic AMP, ATP, and small signaling molecules [1](https://pubmed.ncbi.nlm.nih.gov/20385650/).

In the brain, Cx43 is predominantly expressed in [astrocytes](/entities/astrocytes), where it plays crucial roles in:

Calcium wave propagation: Astrocytic gap junctions allow calcium signals to spread across networks
Metabolic coupling: Gap junctions facilitate sharing of metabolites between astrocytes and [neurons](/entities/neurons)
K⁺ buffering: Rapid clearance of extracellular potassium during neuronal activity
Glial networking: Coordinated responses to neural activity [2](https://pubmed.ncbi.nlm.nih.gov/22113614/)

Disease Associations

[Alzheimer's Disease](/diseases/alzheimers-disease)

Gap junction dysfunction is increasingly recognized in AD pathophysiology. Cx43 expression and function are altered in AD brain tissue and mouse models. [Amyloid-beta](/proteins/amyloid-beta) peptides can directly impair gap junction communication, disrupting astrocytic networks and contributing to synaptic dysfunction [3](https://pubmed.ncbi.nlm.nih.gov/23459194/). Restoring gap junction function has shown promise in preclinical AD models.

[Parkinson's Disease](/diseases/parkinsons-disease)

Cx43 alterations have been documented in Parkinson's disease, particularly in the substantia nigra. Gap junction dysfunction may contribute to dopaminergic neuron vulnerability and neuroinflammation [4](https://pubmed.ncbi.nlm.nih.gov/26228151/).

[Stroke](/diseases/stroke) and Ischemia

During ischemic stroke, Cx43 hemichannels can open inappropriately, allowing toxic calcium influx and contributing to cell death. Cx43 blockers have shown neuroprotective effects in stroke models [5](https://pubmed.ncbi.nlm.nih.gov/27491084/).

[Epilepsy](/diseases/epilepsy)

Altered Cx43 expression and function are observed in epileptic tissue. Gap junction coupling may contribute to synchronous neuronal firing during seizures.

Expression

GJA1 is widely expressed throughout the brain, with highest levels in astrocytes. It is also expressed in leptomeninges, endothelial cells, and certain neuronal populations. Peripheral expression includes heart, ovaries, testis, and skin.

Therapeutic Implications

Targeting Cx43 offers therapeutic opportunities:

Neuroprotective strategies: Developing gap junction modulators for stroke and neurodegeneration
Drug delivery: Using gap junctions to enhance drug distribution in brain tissue
Biomarkers: Cx43 fragments in cerebrospinal fluid as potential biomarkers

Key Publications

[Cx43 in brain function and disease](https://pubmed.ncbi.nlm.nih.gov/20385650/) - PMID: 20385650(https://pubmed.ncbi.nlm.nih.gov/20385650/)

[Astrocytic gap junctions and neural signaling](https://pubmed.ncbi.nlm.nih.gov/22113614/) - PMID: 22113614(https://pubmed.ncbi.nlm.nih.gov/22113614/)

[Cx43 and amyloid-beta toxicity](https://pubmed.ncbi.nlm.nih.gov/23459194/) - PMID: 23459194(https://pubmed.ncbi.nlm.nih.gov/23459194/)

[Cx43 in Parkinson's disease models](https://pubmed.ncbi.nlm.nih.gov/26228151/) - PMID: 26228151(https://pubmed.ncbi.nlm.nih.gov/26228151/)

[Gap junction blockers in stroke](https://pubmed.ncbi.nlm.nih.gov/27491084/) - PMID: 27491084(https://pubmed.ncbi.nlm.nih.gov/27491084/)

External Links

[NCBI Gene: GJA1](https://www.ncbi.nlm.nih.gov/gene/2697)
[UniProt: P17302](https://www.uniprot.org/uniprot/P17302)
[Ensembl: ENSG00000152661](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000152661)
[Human Protein Atlas: GJA1](https://www.proteinatlas.org/genes/GJA1)

Overview

Gja1 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 Gja1 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

[Ratzinger M, Fasan I, Koudelka A, et al, Connexin 43 in neuronal development and repair (2021)](https://pubmed.ncbi.nlm.nih.gov/33574052/)

[Nakase T, Naus CC, Gap junctions and neurological disorders (2020)](https://pubmed.ncbi.nlm.nih.gov/32229257/)

[Sinyuk M, Mulkern RV, Holtzclaw L, et al, GJA1/Cx43 in Alzheimer's disease (2018)](https://pubmed.ncbi.nlm.nih.gov/30424783/)

[Cui Y, Yang Y, Dong J, et al, GJA1 mutations cause oculodentodigital dysplasia (2017)](https://pubmed.ncbi.nlm.nih.gov/28714139/)

[Laird DW, The role of gap junctions in cancer metastasis (2019)](https://pubmed.ncbi.nlm.nih.gov/30553856/)

From the [SciDEX Exchange](/exchange) — scored by multi-agent debate

[Astroglial Gap Junction Coordination via Connexin-43 Phosphorylation Modulation](/hypothesis/h-3a901ec3) — <span style="color:#ffd54f;font-weight:600">0.48</span> · Target: GJA1
[CX43 hemichannel engineering enables size-selective mitochondrial transfer](/hypothesis/h-13ef5927) — <span style="color:#ffd54f;font-weight:600">0.41</span> · Target: GJA1

Pathway Diagram

The following diagram shows the key molecular relationships involving GJA1 discovered through SciDEX knowledge graph analysis:

Mermaid diagram (expand to render)

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Related Entities

GJA1

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kg_node_id	GJA1
entity_type	gene
origin_type	v1_polymorphic_backfill
source_table	wiki_pages
wiki_page_id	wp-af1f27411f68
__merged_from	{'merged_at': '2026-05-13', 'unprefixed_id': 'genes-gja1'}
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📊 Evidence Profile Foundational

Evidence Balance

+0%

Certainty

100%

Debates

0

Incoming

63

Outgoing

74

0 supporting 0 contradicting 0 neutral

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📗 Cite This Artifact

GJA1

GJA1

Overview

GJA1

Overview

Pathway Diagram

Introduction

Gene Overview

Function

Disease Associations

[Alzheimer's Disease](/diseases/alzheimers-disease)

[Parkinson's Disease](/diseases/parkinsons-disease)

[Stroke](/diseases/stroke) and Ischemia

[Epilepsy](/diseases/epilepsy)

Expression

Therapeutic Implications

Key Publications

See Also

External Links

Overview

Background

References

Pathway Diagram

💬 Discussion

📗 Cite This Artifact

GJA1

GJA1

Overview

GJA1

Overview

Pathway Diagram

Introduction

Gene Overview

Function

Disease Associations

[Alzheimer's Disease](/diseases/alzheimers-disease)

[Parkinson's Disease](/diseases/parkinsons-disease)

[Stroke](/diseases/stroke) and Ischemia

[Epilepsy](/diseases/epilepsy)

Expression

Therapeutic Implications

Key Publications

See Also

External Links

Overview

Background

References

Related Hypotheses

Pathway Diagram

💬 Discussion