Gosset Molecular Classification
Other
Other Names
C9orf72-SMCR8 complex subunit
Disease Roles
Chromosome 9 open reading frame 72 Overview
C9orf72 is a protein involved in several cellular processes including RNA metabolism, vesicle trafficking, autophagy, and immune modulation. A hexanucleotide repeat expansion within the C9orf72 gene is a major genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The expansion leads to both loss-of-function and gain-of-toxicity mechanisms, disrupting cellular homeostasis and contributing to neurodegeneration.
Mechanism of Action
Biological Functions
Regulation of RNA metabolism
Vesicle trafficking and lysosome homeostasis
Autophagy regulation
Immune modulation
Disease Associations
Amyotrophic Lateral Sclerosis
Frontotemporal Dementia
Safety Considerations
- Potential for off-target effects when developing therapies that target the GGGGCC repeat expansion.
- Complexity of addressing both loss-of-function and gain-of-toxicity mechanisms in therapeutic development.
Associated Biomarkers
| Biomarker |
|---|
| GGGGCC repeat expansion in C9orf72 gene |