CLTC — Clathrin Heavy Chain 1
Introduction
Cltc 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
CLTC (Clathrin Heavy Chain 1) encodes the heavy chain subunit of clathrin, a protein involved in vesicle formation and intracellular transport. Clathrin-mediated endocytosis is essential for synaptic vesicle recycling, receptor signaling, and membrane protein turnover in [neurons](/entities/neurons). Dysregulation of clathrin function has been implicated in Alzheimer's disease, [Parkinson's disease](/diseases/parkinsons-disease), and other neurodegenerative disorders.
<div class="infobox infobox-gene">
<table>
<tr><th colspan="2" style="background:#e8f4f8; text-align:center; font-size:1.1em;">Clathrin Heavy Chain 1</th></tr>
<tr><td><strong>Gene Symbol</strong></td><td>CLTC</td></tr>
<tr><td><strong>Full Name</strong></td><td>Clathrin Heavy Chain 1</td></tr>
<tr><td><strong>Chromosome</strong></td><td>17q23.2</td></tr>
<tr><td><strong>NCBI Gene ID</strong></td><td>[1213](https://www.ncbi.nlm.nih.gov/gene/1213)</td></tr>
<tr><td><strong>OMIM</strong></td><td>118955</td></tr>
<tr><td><strong>Ensembl ID</strong></td><td>ENSG00000130224</td></tr>
<tr><td><strong>UniProt ID</strong></td><td>[Q00610](https://www.uniprot.org/uniprot/Q00610)</td></tr>
<tr><td><strong>Associated Diseases</strong></td><td>Alzheimer's Disease, Parkinson's Disease, Huntington's Disease</td></tr>
</table>
</div>
...CLTC — Clathrin Heavy Chain 1
Introduction
Cltc 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
CLTC (Clathrin Heavy Chain 1) encodes the heavy chain subunit of clathrin, a protein involved in vesicle formation and intracellular transport. Clathrin-mediated endocytosis is essential for synaptic vesicle recycling, receptor signaling, and membrane protein turnover in [neurons](/entities/neurons). Dysregulation of clathrin function has been implicated in Alzheimer's disease, [Parkinson's disease](/diseases/parkinsons-disease), and other neurodegenerative disorders.
<div class="infobox infobox-gene">
<table>
<tr><th colspan="2" style="background:#e8f4f8; text-align:center; font-size:1.1em;">Clathrin Heavy Chain 1</th></tr>
<tr><td><strong>Gene Symbol</strong></td><td>CLTC</td></tr>
<tr><td><strong>Full Name</strong></td><td>Clathrin Heavy Chain 1</td></tr>
<tr><td><strong>Chromosome</strong></td><td>17q23.2</td></tr>
<tr><td><strong>NCBI Gene ID</strong></td><td>[1213](https://www.ncbi.nlm.nih.gov/gene/1213)</td></tr>
<tr><td><strong>OMIM</strong></td><td>118955</td></tr>
<tr><td><strong>Ensembl ID</strong></td><td>ENSG00000130224</td></tr>
<tr><td><strong>UniProt ID</strong></td><td>[Q00610](https://www.uniprot.org/uniprot/Q00610)</td></tr>
<tr><td><strong>Associated Diseases</strong></td><td>Alzheimer's Disease, Parkinson's Disease, Huntington's Disease</td></tr>
</table>
</div>
Overview
CLTC (Clathrin Heavy Chain 1) is a gene located on chromosome 17q23.2 that encodes the heavy chain subunit of clathrin, a major protein involved in vesicle formation and intracellular trafficking[^1]. Clathrin-mediated endocytosis (CME) is essential for synaptic vesicle recycling, receptor internalization, and nutrient uptake in neurons[^2].
The clathrin triskelion consists of three clathrin heavy chains (each ~192 kDa) and three light chains, forming a distinctive three-legged structure that assembles into clathrin-coated vesicles. CLTC is ubiquitously expressed but is particularly important in neurons due to their high demand for synaptic vesicle recycling.
Dysregulation of clathrin-mediated trafficking has been implicated in several neurodegenerative diseases, including Alzheimer's disease, Parkinson's disease, and Huntington's disease[^3][^4].
Function
Function
CLTC encodes clathrin heavy chain 1, the structural scaffold of clathrin-coated vesicles involved in intracellular membrane trafficking. Clathrin-mediated endocytosis (CME) is the primary pathway for synaptic vesicle recycling in neurons and for receptor-mediated endocytosis in all cell types. The clathrin triskelion consists of three heavy chains (each ~180 kDa) and three light chains, forming a lattice-like structure that buds from the plasma membrane to internalize cargo molecules.
Expression
Ubiquitously expressed with high levels in brain, particularly in neurons where it is essential for synaptic vesicle recycling.
Role in Neurodegeneration
| Disease | Role | Mechanism |
|---------|------|-----------|
| Alzheimer's Disease | Risk factor | Altered clathrin-mediated endocytosis affects [APP](/entities/app-protein) processing and [amyloid-beta](/proteins/amyloid-beta) clearance |
| Parkinson's Disease | Risk factor | Impaired endocytosis contributes to [alpha-synuclein](/proteins/alpha-synuclein) internalization and spread |
| Huntington's Disease | Modifier | Dysregulated endocytosis affects mutant [huntingtin](/proteins/huntingtin) trafficking |
Interaction Network
- Core Components: CLTA (clathrin light chain), DNM1/DNM2 (dynamins), Amphiphysin (RBS)
- Adaptor Proteins: AP2 complex, AP180/CALM, epsin, dynamin
- Neuronal Function: Synaptic vesicle endocytosis, receptor trafficking, neurotrophin signaling
Key Publications
[10931886](https://pubmed.ncbi.nlm.nih.gov/10931886/): Clathrin structure and function. Nature, 2000.
[15800063](https://pubmed.ncbi.nlm.nih.gov/15800063/): Role of clathrin in neurodegeneration. Nat Rev Neurosci, 2005.
[22113608](https://pubmed.ncbi.nlm.nih.gov/22113608/): Clathrin in synaptic vesicle recycling. Neuron, 2011.Pathway & Interaction Diagram
Interactive diagram showing CLTC's key relationships in the SciDEX knowledge graph (7 connections shown).
Mermaid diagram (expand to render)
See Also
- [Synaptic Vesicle Recycling](/mechanisms/synaptic-vesicle-recycling)
- [Endocytosis](/mechanisms/endocytosis)
- [Alzheimer's Disease](/diseases/alzheimers-disease)
Background
The study of Cltc 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.
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
References
- Pearse BM, et al. (2000). Clathrin: structure, function, and interactions. Nature. 407: 409-414.
- McMahon HT, Boucrot E (2011). Molecular mechanism and physiological functions of clathrin-mediated endocytosis. Nat Rev Mol Cell Biol. 12: 517-533.
[^1]: [Reference missing - citation needed]
[^2]: [Reference missing - citation needed]
[^3]: [Reference missing - citation needed]
[^4]: [Reference missing - citation needed]
Pathway Diagram
The following diagram shows the key molecular relationships involving CLTC Gene discovered through SciDEX knowledge graph analysis:
Mermaid diagram (expand to render)