Rnf168 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.
.infobox .infobox-gene
| Gene Symbol | RNF168 |
|---|---|
| Gene Name | Ring Finger Protein 168 |
| Chromosome | 3q29 |
| NCBI Gene ID | 285848 |
| OMIM ID | 612574 |
| Ensembl ID | ENSG00000137236 |
| UniProt ID | Q8IWV1 |
| Associated Diseases | RIDDLE Syndrome, Ataxia Telangiectasia, Cancer |
| --- | --- |
| Categories | DNA Repair, Genome Stability |
This section provides a comprehensive overview of the gene/protein and its role in the nervous system and neurodegenerative diseases.
RNF168 is an E3 ubiquitin ligase essential for DNA double-strand break repair via the homologous recombination pathway. It ubiquitinates histone H2A/H2AX at DNA damage sites, recruiting downstream repair proteins including 53BP1 and RAP80. RNF168 deficiency causes RIDDLE syndrome characterized by immunodeficiency, dwarfism, and learning defects. It is a critical regulator of genome stability in neurons.
The RNF168 gene is associated with several diseases.
The study of Rnf168 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.