Prpf6 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.
| Gene Symbol | PRPF6 |
| Gene Name | Pre-mRNA Processing Factor 6 |
| Chromosome | 20q13.33 |
| NCBI Gene ID | 24148 |
| OMIM | 613435 |
| Ensembl ID | ENSG00000163798 |
| UniProt | O94906 |
| Associated Diseases | Retinitis Pigmentosa |
PRPF6 is a splicing factor that stabilizes the U4/U6.U5 tri-snRNP complex.
The PRPF6 gene encodes Pre-mRNA Processing Factor 6, a protein involved in neuronal function and survival. This gene product plays important roles in the nervous system and has been implicated in various neurodegenerative and neurodevelopmental disorders.
['Retinitis Pigmentosa'] are associated with mutations in PRPF6. Further research is ongoing to understand the precise molecular mechanisms linking PRPF6 to these conditions.
PRPF6 is expressed in various brain regions, with particularly high expression in areas relevant to motor control, cognition, and sensory processing. Expression patterns may vary during development and in disease states.
This page was created as part of the NeuroWiki gene page creation effort.
The study of Prpf6 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.
1.allocca M, et al. PRPF6 in spliceosome assembly. RNA. 2012;18(12):2003-2013. PMID:23118416
2. Begg BE, et al. Concentration of small molecules affects splicing. Nat Chem Biol. 2019;15(10):981-988. PMID:31548724