C9orf72 (chromosome 9 open reading frame 72)

C9orf72 is a gene located on chromosome 9 that plays a role in brain cell function and communication. Variations or mutations in this gene, particularly a repeat expansion, are linked to neurodegenerative diseases such as amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). These expansions can disrupt normal gene activity, leading to the accumulation of abnormal proteins and nerve cell death. Understanding C9orf72 helps researchers investigate the underlying causes of these conditions and develop targeted therapies.