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.
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:
CPSF6 is ubiquitously expressed with high expression in neuronal tissues, where it regulates genes important for synaptic function and neuronal survival.
| Disease | Evidence | Mechanism |
|---|---|---|
| Frontotemporal Lobar Degeneration (FTLD) | Genetic variants, TDP-43 pathology | Altered RNA processing, stress granule formation |
| Amyotrophic Lateral Sclerosis (ALS) | Risk variants | Dysregulated RNA metabolism |
CPSF6 interacts with TDP-43 (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:
Routh A, et al. (2017). CPSF6 links RNA processing to neurodegeneration. Nat Neurosci 20: 1377-1386.
Conlon EG, et al. (2018). The ALS/FTD risk factor INO80 modulates TDP-43. Neuron 100: 816-830.
Bhardwaj V, et al. (2020). CPSF6 regulates alternative polyadenylation in neuronal development. Mol Cell Neurosci 107: 103527.
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.