C9Orf72 Protein plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.
C9Orf72 Protein is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
| Property | Value |
|---|---|
| Protein Name | C9orf72 protein |
| Gene | C9orf72 |
| UniProt ID | Q96LT7 |
| PDB ID | Predicted; cryo-EM structures in development |
| Molecular Weight | ~54 kDa |
| Subcellular Localization | Cytoplasm; associated with endosomes and lysosomes |
| Protein Family | DENN domain family |
The C9orf72 protein is a 481-amino acid protein with a DENN (Differential Expression in Normal and Neoplastic cells) domain[1]:
The DENN domain functions as a guanine nucleotide exchange factor (GEF) for Rab GTPases, particularly Rab8 and Rab39.
C9orf72 is essential for cellular trafficking:
The hexanucleotide repeat expansion causes disease through multiple mechanisms[2]:
The repeat expansion undergoes RAN translation producing five toxic DPRs:
C9Orf72 Protein plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.
The study of C9Orf72 Protein 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.