CHL1 Gene

CHL1 Gene

<div class="infobox infobox-gene">
<table>
<tr><th colspan="2" style="background:#f0f0f0;">CHL1</th></tr> [@chl2021]
<tr><td><b>Full Name</b></td><td>CHL1 Neural Cell Adhesion Molecule</td></tr> [@family2020]
<tr><td><b>Category</b></td><td>Gene</td></tr> [@chl2021a]
<tr><td><b>Path</b></td><td>/genes/chl1</td></tr>
<tr>
<td class="label">Associated Diseases</td>
<td><a href="/wiki/als" style="color:#ef9a9a">Als</a>, <a href="/wiki/alzheimer" style="color:#ef9a9a">Alzheimer</a>, <a href="/wiki/ms" style="color:#ef9a9a">Ms</a></td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">9 edges</a></td>
</tr>
</table>
</div>

Overview

CHL1 Gene

<div class="infobox infobox-gene">
<table>
<tr><th colspan="2" style="background:#f0f0f0;">CHL1</th></tr> [@chl2021]
<tr><td><b>Full Name</b></td><td>CHL1 Neural Cell Adhesion Molecule</td></tr> [@family2020]
<tr><td><b>Category</b></td><td>Gene</td></tr> [@chl2021a]
<tr><td><b>Path</b></td><td>/genes/chl1</td></tr>
<tr>
<td class="label">Associated Diseases</td>
<td><a href="/wiki/als" style="color:#ef9a9a">Als</a>, <a href="/wiki/alzheimer" style="color:#ef9a9a">Alzheimer</a>, <a href="/wiki/ms" style="color:#ef9a9a">Ms</a></td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">9 edges</a></td>
</tr>
</table>
</div>

Overview

CHL1 (CHL1 Neural Cell Adhesion Molecule, also known as CALL or L1CAM-like) encodes a neural cell adhesion molecule belonging to the L1 family of immunoglobulin superfamily CAMs. CHL1 is a transmembrane protein that mediates cell-cell adhesion, axonal guidance, and synaptic formation in the developing and adult nervous system. It plays crucial roles in neuronal migration, axon tract formation, [synaptic plasticity](/mechanisms/synaptic-plasticity), and has been implicated in [Alzheimer's disease](/diseases/alzheimers-disease), [Parkinson's disease](/diseases/parkinsons-disease), and [intellectual disability](/diseases/intellectual-disability).

Gene Overview

| Attribute | Value |
|-----------|-------|
| Symbol | CHL1 |
| Full Name | CHL1 Neural Cell Adhesion Molecule |
| Chromosome | 3p26.3 |
| NCBI Gene ID | [10752](https://www.ncbi.nlm.nih.gov/gene/10752) |
| OMIM ID | [300114](https://www.omim.org/entry/300114) |
| UniProt ID | [P0CAT4](https://www.uniprot.org/uniprot/P0CAT4) |
| Ensembl ID | [ENSG00000113838](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000113838) |

Protein Structure and Function

CHL1 is a ~200 kDa transmembrane glycoprotein with the following structure:

• Extracellular domain - Contains 6 Ig-like domains and 5 fibronectin type III repeats, mediating homophilic and heterophilic interactions
• Transmembrane domain - Single pass transmembrane region
• Cytoplasmic tail - Contains motifs for interaction with ankyrin and adaptor proteins

Brain Expression and Localization

CHL1 is primarily expressed in the nervous system:

• Cerebral [cortex](/brain-regions/cortex) - Layer-specific expression in pyramidal [neurons](/entities/neurons)
• [Hippocampus](/brain-regions/hippocampus) - High expression in CA1-CA3 pyramidal cells and dentate gyrus granule cells
• Cerebellum - Expression in Purkinje cells and granule cells
• Olfactory bulb - Prominent expression in mitral and tufted cells
• Thalamus and hypothalamus - Regional expression in relay neurons
• Dorsal root ganglia - Sensory neuron expression

Disease Associations

Alzheimer's Disease

CHL1 is implicated in [Alzheimer's disease](/diseases/alzheimers-disease) through several mechanisms:

• Synaptic dysfunction - CHL1 levels correlate with synaptic markers in AD brain
• [Amyloid-beta](/proteins/amyloid-beta) interaction - CHL1 may serve as a receptor for amyloid-beta toxicity
• Neuronal network dysfunction - CHL1 deficiency exacerbates hippocampal network abnormalities
• Axonal transport - CHL1 associates with microtubule motors involved in axonal transport

Parkinson's Disease

In [Parkinson's disease](/diseases/parkinsons-disease), CHL1 involvement includes:

• Dopaminergic neuron survival mechanisms
• Axonal integrity in the nigrostriatal pathway
• Potential interaction with [alpha-synuclein](/proteins/alpha-synuclein) pathology

Neurodevelopmental Disorders

CHL1 mutations and dysregulation are associated with:

• Intellectual disability - CHL1 haploinsufficiency linked to cognitive impairment
• Autism spectrum disorder - Altered CHL1 expression in some ASD cases
• Schizophrenia - CHL1 gene variants associated with risk

Cancer

Interestingly, CHL1 shows dual roles in cancer:

• Tumor suppressor in some cancers (breast, colon)
• Promotes metastasis in others (melanoma, glioma)

Therapeutic Implications

CHL1 represents a potential therapeutic target for:

Key Publications

See Also

• [Genes Index](/genes)
• [Cell Adhesion Molecules](/mechanisms/cell-adhesion-molecules)
• [Synaptic Plasticity](/mechanisms/synaptic-plasticity)
• [Alzheimer's Disease](/diseases/alzheimers-disease)
• [Parkinson's Disease](/diseases/parkinsons-disease)
• [Intellectual Disability](/diseases/intellectual-disability)
• [Axon Guidance](/mechanisms/axon-guidance)

External Links

• [NCBI Gene - CHL1](https://www.ncbi.nlm.nih.gov/gene/10752)
• [UniProt - CHL1](https://www.uniprot.org/uniprot/P0CAT4)
• [Ensembl - CHL1](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000113838)
• [OMIM - CHL1](https://www.omim.org/entry/300114)

References

Pathway Diagram

The following diagram shows the key molecular relationships involving CHL1 Gene discovered through SciDEX knowledge graph analysis: