Cpsf6 — Cleavage And Polyadenylation Specific Factor 6 is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
Cpsf6 — Cleavage And Polyadenylation Specific Factor 6 is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
<div class="infobox infobox-gene">
<div class="infobox-header">CPSF6 Gene</div>
<div class="infobox-row">
<div class="infobox-label">Gene Symbol</div>
<div class="infobox-value">CPSF6</div>
</div>
<div class="infobox-row">
<div class="infobox-label">Full Name</div>
<div class="infobox-value">Cleavage and Polyadenylation Specific Factor 6</div>
</div>
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<div class="infobox-label">Chromosomal Location</div>
<div class="infobox-value">12q15</div>
</div>
<div class="infobox-row">
<div class="infobox-label">NCBI Gene ID</div>
<div class="infobox-value"><a href="https://www.ncbi.nlm.nih.gov/gene/11027" target="_blank">11027</a></div>
</div>
<div class="infobox-row">
<div class="infobox-label">OMIM</div>
<div class="infobox-value">—</div>
</div>
<div class="infobox-row">
<div class="infobox-label">Ensembl ID</div>
<div class="infobox-value">ENSG00000149596</div>
</div>
<div class="infobox-row">
<div class="infobox-label">UniProt ID</div>
<div class="infobox-value"><a href="https://www.uniprot.org/uniprot/Q16630" target="_blank">Q16630</a></div>
</div>
<div class="infobox-row">
<div class="infobox-label">Associated Diseases</div>
<div class="infobox-value">[Frontotemporal Lobar Degeneration](/diseases/frontotemporal-lobar-degeneration), [Amyotrophic Lateral Sclerosis](/diseases/als)</div>
</div>
<div class="infobox-row">
<div class="infobox-label">Inheritance</div>
<div class="infobox-value">—</div>
</div>
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This page provides comprehensive information about the gene/protein/cell type, its function in the nervous system, and its role in neurodegenerative diseases.
CPSF6 encodes a component of the cleavage and polyadenylation specificity factor (CPSF) complex, which is essential for mRNA 3'-end processing. Beyond its canonical role in mRNA maturation, CPSF6 has been implicated in various nuclear processes.
Key functions include:
| Disease | Evidence | Mechanism |
|---------|----------|-----------|
| Frontotemporal Lobar Degeneration (FTLD) | Genetic variants, [TDP-43](/proteins/tdp-43) pathology | Altered RNA processing, stress granule formation |
| Amyotrophic Lateral Sclerosis (ALS) | Risk variants | Dysregulated RNA metabolism |
CPSF6 interacts with [TDP-43](/mechanisms/tdp-43-proteinopathy) (TARDBP), a protein that forms inclusions in ALS and most cases of FTLD. Genetic variants in CPSF6 may contribute to disease risk by altering RNA processing of genes important for neuronal function.
CPSF6 is expressed in:
The study of Cpsf6 — Cleavage And Polyadenylation Specific Factor 6 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.
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