C9

Description

C9orf72 is a gene located on chromosome 9, known for its involvement in several neurodegenerative disorders. Its function remains largely unknown, but research suggests it plays a role in cellular processes like transcription and RNA metabolism. The gene is particularly notable due to its association with the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Mutations in C9orf72 lead to the production of toxic dipeptide repeats that disrupt cellular function and ultimately contribute to neurodegeneration.

Associated Diseases

• Amyotrophic lateral sclerosis (ALS)
• Frontotemporal dementia (FTD)
• Alzheimer‘s disease
• Parkinson‘s disease
• Spinocerebellar ataxia

Did you know?

Mutations in C9orf72 are the most common genetic cause of ALS and FTD, accounting for up to 40% of familial cases.