C9orf9
C9orf9: A Gene of Intrigue and Promise
Description
C9orf9 is a gene located on chromosome 9. Its function is not fully understood, but recent research has shed light on its potential role in various biological processes, including RNA metabolism, neurodevelopment, and immune responses.
Associated Diseases
Mutations in the C9orf9 gene have been linked to several diseases, including:
- Amyotrophic Lateral Sclerosis (ALS): ALS is a fatal neurodegenerative disease characterized by the progressive loss of motor neurons. Mutations in C9orf9 are the most common genetic cause of both familial and sporadic ALS.
- Frontotemporal Dementia (FTD): FTD is a group of neurodegenerative disorders that affect the frontal and temporal lobes of the brain. C9orf9 mutations are also associated with FTD, particularly in individuals with a family history of the disease.
- Charcot-Marie-Tooth Disease: This is a group of inherited neurological disorders that affect the peripheral nerves. Some forms of Charcot-Marie-Tooth disease have been linked to mutations in C9orf9.
Did you Know ?
Approximately 1 in 10 people with familial ALS carry a mutation in C9orf9. This makes it the most common known genetic cause of this devastating disease.
