C1QC

C1QC

Introduction

C1QC encodes the C-chain subunit of the complement component C1, the initiating complex of the classical complement pathway. The C1 complex consists of one C1q subunit (made of C1QA, C1QB, and C1QC chains) and two C1r and C1s protease subunits. C1QC is essential for immune complex recognition and activation of the complement cascade, playing a critical role in both peripheral immunity and neuroinflammation within the central nervous system. [@stephan2012]

<div class="infobox infobox-gene"> [@bialas2013]
<table> [@hong2016]
<tr><th colspan="2" style="background:#1a5f7a;color:white;">C1QC</th></tr>
</table>
</div>

Overview

The C1QC gene encodes a component of the [complement system](/entities/complement-system), part of the innate immune system involved in inflammation and immune response.

C1QC

Introduction

C1QC encodes the C-chain subunit of the complement component C1, the initiating complex of the classical complement pathway. The C1 complex consists of one C1q subunit (made of C1QA, C1QB, and C1QC chains) and two C1r and C1s protease subunits. C1QC is essential for immune complex recognition and activation of the complement cascade, playing a critical role in both peripheral immunity and neuroinflammation within the central nervous system. [@stephan2012]

<div class="infobox infobox-gene"> [@bialas2013]
<table> [@hong2016]
<tr><th colspan="2" style="background:#1a5f7a;color:white;">C1QC</th></tr>
</table>
</div>

Overview

The C1QC gene encodes a component of the [complement system](/entities/complement-system), part of the innate immune system involved in inflammation and immune response.

<div class="infobox infobox-gene">
<div class="infobox-header">Complement Component 1, Q Subcomponent, C Chain</div>
<div class="infobox-row"><span class="infobox-label">Gene Symbol</span><span class="infobox-value">C1QC</span></div>
<div class="infobox-row"><span class="infobox-label">Full Name</span><span class="infobox-value">Complement Component 1, Q Subcomponent, C Chain</span></div>
<div class="infobox-row"><span class="infobox-label">Chromosomal Location</span><span class="infobox-value">1p36.12</span></div>
<div class="infobox-row"><span class="infobox-label">NCBI Gene ID</span><span class="infobox-value">[714](https://www.ncbi.nlm.nih.gov/gene/714)</span></div>
<div class="infobox-row"><span class="infobox-label">OMIM</span><span class="infobox-value">[120570](https://omim.org/entry/120570)</span></div>
<div class="infobox-row"><span class="infobox-label">Ensembl ID</span><span class="infobox-value">ENSG00000166922</span></div>
<div class="infobox-row"><span class="infobox-label">UniProt ID</span><span class="infobox-value">[P02748](https://www.uniprot.org/uniprot/P02748)</span></div>
<div class="infobox-row"><span class="infobox-label">Associated Diseases</span><span class="infobox-value">Systemic Lupus Erythematosus, Age-Related Macular Degeneration</span></div>
</div>

Function

The C1QC gene encodes the C chain of the C1q protein, which is the recognition component of the classical complement pathway. C1q is a hexameric molecule composed of 6 A chains, 6 B chains, and 6 C chains (C1QA, C1QB, C1QC). Each chain contributes to the overall structure and function of the C1q complex.

C1q serves as a pattern recognition receptor that binds to:

• Antibody-antigen complexes (immune complexes)
• Pathogen-associated molecular patterns (PAMPs)
• Damage-associated molecular patterns (DAMPs)
• Apoptotic cells and cellular debris

Disease Associations

Neurodegenerative Disease Links

C1q plays a significant role in neuroinflammation and has been implicated in several neurodegenerative conditions:

• [Alzheimer's Disease](/diseases/alzheimers-disease): C1q is upregulated in AD brain and localizes to amyloid plaques and neurofibrillary tangles. It contributes to microglial activation and synaptic elimination.
• [Parkinson's Disease](/diseases/parkinsons-disease): C1q is involved in neuroinflammation in the substantia nigra and may contribute to dopaminergic neuron loss.
• Amyotrophic Lateral Sclerosis: C1q is implicated in the inflammatory response and may be involved in motor neuron degeneration.
• Age-Related Macular Degeneration: Genetic variants in C1QC are associated with AMD risk.

Genetic Associations

• Single nucleotide polymorphisms (SNPs) in C1QC have been associated with increased risk for systemic lupus erythematosus (SLE) and AMD.
• Rare variants in complement genes can lead to complement deficiencies, increasing susceptibility to infections.

Expression

C1QC is expressed in various tissues, with high expression in:

• Brain: Local expression by [microglia](/cell-types/microglia-neuroinflammation), [astrocytes](/entities/astrocytes), and [neurons](/entities/neurons). C1q is synthesized in the brain and can be upregulated by inflammatory stimuli.
• Liver: Primary site of complement protein synthesis
• Immune cells: Macrophages, monocytes, and dendritic cells

Background

The study of C1Qc 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.

Cross-References

• Complement System
• [Neuroinflammation](/mechanisms/neuroinflammation) [Alzheimer's Disease]- [Microglia](/cell-types/microglia)zheimers-disease)
• [Microglia](/cell-types/microglia) C1- [Neuroinflammation](/mechanisms/neuroinflammation)nt System
• [Neuroinflammation](/mechanisms/neuroinflammation)m
• [Neuroinflammation](/mechanisms/neuroinflammation) [Alzheimer's Disease](/diseases/alzheimers-disease)
• [Parkinson's Disease](/diseases/parkinsons-disease)

External Links

• [NCBI Gene](https://www.ncbi.nlm.nih.gov/gene)
• [UniProt](https://www.uniprot.org)
• [OMIM](https://www.omim.org)

References

Pathway Diagram

The following diagram shows the key molecular relationships involving C1QC discovered through SciDEX knowledge graph analysis:

Pathway Diagram

The following diagram shows the key molecular relationships involving C1QC discovered through SciDEX knowledge graph analysis: