CCDC114 (Coiled-Coil Domain Containing 114) is a protein encoded by the CCDC114 gene that functions as a component of the nuclear envelope and is involved in nuclear organization and gene regulation. While primarily studied in the context of ciliary function and male infertility, CCDC114 may have roles in neuronal cells that are relevant to neurodegeneration.
| Property | Value |
|---|---|
| Symbol | CCDC114 |
| Full Name | Coiled-Coil Domain Containing 114 |
| Aliases | DC2, KLK |
| Gene ID | 148268 |
| Protein Class | Nuclear envelope protein |
| Subcellular Location | Nuclear envelope |
CCDC114 contains multiple coiled-coil domains that facilitate protein-protein interactions. [1] The protein localizes to the nuclear envelope, where it interacts with nuclear lamina components and contributes to nuclear organization. [2]
CCDC114 is expressed in various tissues, with highest expression in testis and lower expression in brain tissue. [3] In neurons, nuclear envelope proteins play critical roles in chromatin organization, gene expression regulation, and nuclear-cytoplasmic transport—all processes affected in neurodegeneration.
Biallelic mutations in CCDC114 cause primary ciliary dyskinesia (PCD), a disorder of motile cilia characterized by recurrent respiratory infections and infertility. [4] While not directly linked to neurodegenerative disease, PCD research provides insights into ciliary signaling that may be relevant to neuronal function.
The role of CCDC114 in nuclear envelope function suggests potential connections to neurodegeneration through several mechanisms:
Nuclear Pore Complex Integrity: Nuclear envelope proteins contribute to nuclear pore complex function, which is compromised in several neurodegenerative diseases. [5]
Chromatin Organization: Proper nuclear architecture is essential for neuronal gene expression programs, and disruptions are observed in Alzheimer's and Parkinson's disease. [6]
DNA Damage Response: Nuclear envelope proteins participate in DNA repair mechanisms, and inefficient repair contributes to neuronal death. [7]
Further investigation is needed to: