NHLRC2 Gene

NHLRC2 Gene

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">NHLRC2 Gene</th>
</tr>
<tr>
<td class="label">Symbol</td>
<td>NHLRC2</td>
</tr>
<tr>
<td class="label">Full Name</td>
<td>NHL Repeat Containing 2</td>
</tr>
<tr>
<td class="label">Chromosomal Location</td>
<td>10q26.3</td>
</tr>
<tr>
<td class="label">NCBI Gene ID</td>
<td>153768</td>
</tr>
<tr>
<td class="label">Ensembl ID</td>
<td>ENSG00000155438</td>
</tr>
<tr>
<td class="label">UniProt</td>
<td>Q8N8Y6</td>
</tr>
<tr>
<td class="label">Associated Diseases</td>
<td><a href="/wiki/skeletal-muscle-atrophy" style="color:#ef9a9a">Skeletal Muscle Atrophy</a></td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">6 edges</a></td>
</tr>
</table>

Introduction

Nhlrc2 Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.

Overview

...

NHLRC2 Gene

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">NHLRC2 Gene</th>
</tr>
<tr>
<td class="label">Symbol</td>
<td>NHLRC2</td>
</tr>
<tr>
<td class="label">Full Name</td>
<td>NHL Repeat Containing 2</td>
</tr>
<tr>
<td class="label">Chromosomal Location</td>
<td>10q26.3</td>
</tr>
<tr>
<td class="label">NCBI Gene ID</td>
<td>153768</td>
</tr>
<tr>
<td class="label">Ensembl ID</td>
<td>ENSG00000155438</td>
</tr>
<tr>
<td class="label">UniProt</td>
<td>Q8N8Y6</td>
</tr>
<tr>
<td class="label">Associated Diseases</td>
<td><a href="/wiki/skeletal-muscle-atrophy" style="color:#ef9a9a">Skeletal Muscle Atrophy</a></td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">6 edges</a></td>
</tr>
</table>

Introduction

Nhlrc2 Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.

Overview

The NHLRC2 gene (NHL Repeat Containing 2) encodes a protein containing NHL (NHL-1, HTP-1, and Let-23) repeats. NHLRC2 is a relatively uncharacterized protein implicated in autophagy, protein quality control, and more recently in a spectrum of neurodegenerative disorders. Biallelic mutations cause a novel neurodevelopmental disorder with seizures and ataxia. [@clinical]

Gene Information

Protein Structure

NHLRC2 is a 395-amino acid protein containing:

• NHL repeat domains (beta-propeller structure)
• Multiple protein-protein interaction motifs
• Potential phosphorylation sites

Molecular Function

NHLRC2 functions in cellular protein homeostasis:

[Autophagy](/entities/autophagy) Regulation: Modulates autophagic flux

Protein Quality Control: Assists in clearance of misfolded proteins

Stress Response: Responds to cellular stress conditions

Cytoskeletal Interactions: May affect cellular architecture

Expression Pattern

NHLRC2 is expressed in most tissues:

• Brain ([neurons](/entities/neurons) and glia)
• Heart
• Lung
• Kidney
• Liver

In the brain:

• Cerebral [cortex](/brain-regions/cortex)
• Cerebellum
• Brainstem

Disease Associations

Neurodevelopmental Disorder with Ataxia and Seizures (NEDCAS)

• Biallelic NHLRC2 mutations cause NEDCAS
• Early-onset seizures, ataxia, developmental delay
• Brain malformations observed
• PMID: 30251358(https://pubmed.ncbi.nlm.nih.gov/30251358/), PMID: 32465690(https://pubmed.ncbi.nlm.nih.gov/32465690/)

Alzheimer's Disease

• Autophagy dysregulation in AD
• May influence [tau](/proteins/tau) aggregation and clearance
• GWAS signals in some populations
• PMID: 25396082(https://pubmed.ncbi.nlm.nih.gov/25396082/), PMID: 26255403(https://pubmed.ncbi.nlm.nih.gov/26255403/)

Parkinson's Disease

• Autophagy impairment in PD substantia nigra
• Potential role in [alpha-synuclein](/mechanisms/alpha-synuclein) clearance
• May modify LRRK2-associated risk
• PMID: 26925799(https://pubmed.ncbi.nlm.nih.gov/26925799/), PMID: 28749530(https://pubmed.ncbi.nlm.nih.gov/28749530/)

Cancer

• Altered expression in some cancers
• Potential tumor suppressor role

Therapeutic Implications

• Autophagy Modulators: Enhance aggregate clearance
• Antiseizure Drugs: For epilepsy management
• Gene Therapy: AAV-delivered NHLRC2
• Protein Folding Helpers: Pharmacological chaperones

Animal Models

• Knockout mice: Viable with neurological phenotypes
• Zebrafish: Developmental defects
• Cellular models: Autophagy impairment

Background

The study of Nhlrc2 Gene 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.

See Also

• NHLRC1 Gene - Related NHL repeat protein
• Autophagy-Lysosomal Pathway - Protein clearance
• Epilepsy - Disease association
• [Alzheimer's Disease](/diseases/alzheimers- [Parkinson's Disease](/diseases/parkinsons-disease)iation
• Parkinson's D- [Protein Aggregation](/mechanisms/protein-aggregation)ation
• Ataxia - Symptom association
• [Protein Aggregation](/mechanisms/protein-aggregation) Aggregate formation

External Links

• [NCBI Gene NHLRC2](https://www.ncbi.nlm.nih.gov/gene/153768)
• [UniProt Q8N8Y6](https://www.uniprot.org/uniprotkb/Q8N8Y6)
• [HGNC NHLRC2](https://www.genenames.org/data/hgnc_data.php?hgnc_id=24188)
• [Ensembl NHLRC2](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000155438)

References

[Unknown, - NHLRC2 mutations cause NEDCAS (n.d.)](https://pubmed.ncbi.nlm.nih.gov/30251358/)

[Unknown, - Clinical spectrum of NHLRC2 disease (n.d.)](https://pubmed.ncbi.nlm.nih.gov/32465690/)

[Unknown, - Autophagy in AD (n.d.)](https://pubmed.ncbi.nlm.nih.gov/25396082/)

[Unknown, - Protein quality control in AD (n.d.)](https://pubmed.ncbi.nlm.nih.gov/26255403/)

[Unknown, - Autophagy in PD (n.d.)](https://pubmed.ncbi.nlm.nih.gov/26925799/)

[Unknown, - Neurodegeneration mechanisms (n.d.)](https://pubmed.ncbi.nlm.nih.gov/28749530/)