CYLD Gene

CYLD Gene

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">CYLD — Cylindromatosis Lysine Deacetylase</th>
</tr>
<tr> [@cyld2020]
<td class="label">Symbol</td> [@nfb2019]
<td><strong>CYLD</strong></td> [@targeting2022]
</tr> [@cyld2021a]
<tr>
<td class="label">Full Name</td>
<td>Cylindromatosis Lysine Deacetylase</td>
</tr>
<tr>
<td class="label">Chromosome</td>
<td>16q12.1</td>
</tr>
<tr>
<td class="label">NCBI Gene</td>
<td><a href="https://www.ncbi.nlm.nih.gov/gene/79583" target="_blank">79583</a></td>
</tr>
<tr>
<td class="label">Ensembl</td>
<td><a href="https://ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000083799" target="_blank">ENSG00000083799</a></td>
</tr>
<tr>
<td class="label">OMIM</td>
<td><a href="https://omim.org/entry/605018" target="_blank">605018</a></td>
</tr>
<tr>
<td class="label">UniProt</td>
<td><a href="https://www.uniprot.org/uniprot/Q9NQC8" target="_blank">Q9NQC8</a></td>
</tr>
<tr>
<td class="label">Diseases</td>
<td>[Amyotrophic Lateral Sclerosis](/diseases/amyotrophic-lateral-sclerosis), [Frontotemporal Dementia](/diseases/frontotemporal-dementia), [Cylindroma](/diseases/cylindromatosis)</td>
</tr>
<tr>
<td class="label">Expression</td>
<td>Brain, Spinal Cord, Lymph Nodes, Skin</td>
</tr>
<tr>
<td class="label">Associated Diseases</td>
<td><a href="/wiki/als" style="color:#ef9a9a">Als</a>, <a href="/wiki/cancer" style="color:#ef9a9a">Cancer</a>, <a href="/wiki/fibrosis" style="color:#ef

CYLD Gene

<table class="infobox infobox-gene">
<tr>
<th class="infobox-header" colspan="2">CYLD — Cylindromatosis Lysine Deacetylase</th>
</tr>
<tr> [@cyld2020]
<td class="label">Symbol</td> [@nfb2019]
<td><strong>CYLD</strong></td> [@targeting2022]
</tr> [@cyld2021a]
<tr>
<td class="label">Full Name</td>
<td>Cylindromatosis Lysine Deacetylase</td>
</tr>
<tr>
<td class="label">Chromosome</td>
<td>16q12.1</td>
</tr>
<tr>
<td class="label">NCBI Gene</td>
<td><a href="https://www.ncbi.nlm.nih.gov/gene/79583" target="_blank">79583</a></td>
</tr>
<tr>
<td class="label">Ensembl</td>
<td><a href="https://ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000083799" target="_blank">ENSG00000083799</a></td>
</tr>
<tr>
<td class="label">OMIM</td>
<td><a href="https://omim.org/entry/605018" target="_blank">605018</a></td>
</tr>
<tr>
<td class="label">UniProt</td>
<td><a href="https://www.uniprot.org/uniprot/Q9NQC8" target="_blank">Q9NQC8</a></td>
</tr>
<tr>
<td class="label">Diseases</td>
<td>[Amyotrophic Lateral Sclerosis](/diseases/amyotrophic-lateral-sclerosis), [Frontotemporal Dementia](/diseases/frontotemporal-dementia), [Cylindroma](/diseases/cylindromatosis)</td>
</tr>
<tr>
<td class="label">Expression</td>
<td>Brain, Spinal Cord, Lymph Nodes, Skin</td>
</tr>
<tr>
<td class="label">Associated Diseases</td>
<td><a href="/wiki/als" style="color:#ef9a9a">Als</a>, <a href="/wiki/cancer" style="color:#ef9a9a">Cancer</a>, <a href="/wiki/fibrosis" style="color:#ef9a9a">Fibrosis</a>, <a href="/wiki/infection" style="color:#ef9a9a">Infection</a>, <a href="/wiki/inflammation" style="color:#ef9a9a">Inflammation</a></td>
</tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">58 edges</a></td>
</tr>
</table>

CYLD — Cylindromatosis Lysine Deacetylase

Introduction

Cyld 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

CYLD encodes a lysine deubiquitinase that removes ubiquitin chains from various substrates, regulating signaling pathways including [NF-kappaB](/entities/nf-kb), Wnt, and innate immunity. Originally identified as the gene mutated in familial cylindromatosis (a skin tumor syndrome), CYLD has more recently been implicated in neurodegenerative diseases including amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).

Function

CYLD is a ubiquitin-specific protease (USP) that specifically cleaves Lys63-linked polyubiquitin chains. It plays crucial roles in:

• NF-κB signaling regulation: Deubiquitination of TRAF2, TRAF6, and NEMO to inhibit NF-κB activation
• Wnt signaling: Modulates β-catenin degradation
• Innate immunity: Negatively regulates RIG-I and MDA5 antiviral signaling
• Cell cycle regulation: Controls mitotic spindle assembly
• [Autophagy](/entities/autophagy) regulation: Influences selective autophagy through deubiquitination of autophagic receptors

Disease Associations

Amyotrophic Lateral Sclerosis (ALS)

Recessive CYLD mutations have been identified in ALS patients. CYLD deficiency leads to:

• Increased NF-κB activation in motor [neurons](/entities/neurons)
• Enhanced inflammatory response
• Impaired autophagy
• Increased susceptibility to oxidative stress

Frontotemporal Dementia (FTD)

CYLD mutations are also found in FTD cases, particularly in patients with comorbid motor neuron disease. The same mechanisms of impaired NF-κB regulation and autophagy dysfunction contribute to neurodegeneration.

Familial Cylindromatosis

Autosomal dominant CYLD mutations cause multiple skin appendage tumors (cylindromas, spiradenomas, trichoepitheliomas) arising from sweat glands.

Therapeutic Implications

CYLD represents a potential therapeutic target in ALS/FTD:

• NF-κB inhibitors may benefit motor neuron survival
• Autophagy modulators could restore protein clearance
• Anti-inflammatory approaches may reduce neuroinflammation

Key Publications

Background

The study of Cyld 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

• [Parkinson's Disease](/diseases/parkinsons-disease)
• [Alpha-Synuclein](/mechanisms/alpha-synuclein)
• [/mechanisms/app-processing](/mechanisms/app-processing)
• [/mechanisms/amyloid-aggregation](/mechanisms/amyloid-aggregation)
• [/mechanisms/microglia-neuroinflammation](/mechanisms/microglia-neuroinflammation)

External Links

• [PubMed](https://pubmed.ncbi.nlm.nih.gov/) - Biomedical literature
• [Alzheimer's Disease Neuroimaging Initiative](https://adni.loni.usc.edu/) - Research data
• [Allen Brain Atlas](https://brain-map.org/) - Brain gene expression data

Cross-references

• [Amyotrophic Lateral Sclerosis](/diseases/amyotrophic-lateral-sclerosis)
• [Frontotemporal Dementia](/diseases/frontotemporal-dementia)
• [NF-κB Signaling](/entities/nf-kappa-b)
• [Ubiquitin-Proteasome System](/cell-types/ubiquitin-proteasome-system)
• [CYLD Protein](/proteins/cyld-protein)

See Also

• [NF-kB Signaling](/mechanisms/nfkb-signaling-pathway)
• [Ubiquitination](/proteins/ubiquitin)
• [Deubiquitinases](/proteins/ubiquitin)
• [Spinal Muscular Atrophy](/cell-types/spinal-motor-neurons-sma)
• [Tumor Suppressor Genes](/content/genes)

External Links

• [NCBI Gene: CYLD](https://www.ncbi.nlm.nih.gov/gene/1540)
• [UniProt: CYLD (Q9UQC2)](https://www.uniprot.org/uniprot/Q9UQC2)
• [OMIM: CYLD](https://www.omim.org/entry/605814)
• [HGNC: CYLD](https://www.genenames.org/data/hgnc_data.php?hgnc_id=2584)
• [ENSEMBL: CYLD](https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000017427)

References

Pathway Diagram

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