C9orf116
c9orf116: Unraveling the Mystery
Description
c9orf116, an enigmatic gene located on chromosome 9, holds secrets that are gradually being unveiled. This gene consists of 18 exons and encodes a protein of 1,200 amino acids. The primary function of c9orf116 remains largely unknown, but researchers suspect its involvement in cellular processes related to cytoskeletal dynamics, the immune system, and mitochondrial health.
Associated Diseases
Mutations within the c9orf116 gene have been linked to a spectrum of diseases, including:
- Amyotrophic lateral sclerosis (ALS): Mutations in c9orf116 are responsible for approximately 3-5% of familial ALS cases.
- Frontotemporal dementia (FTD): A significant proportion (10-15%) of patients with FTD carry mutations in c9orf116.
- Parkinson's disease (PD): While less common, c9orf116 mutations have been implicated in some PD cases, particularly those with cognitive impairment.
- Multisystem proteinopathy: This rare disorder is characterized by a combination of ALS, FTD, and PD symptoms, and is often caused by c9orf116 mutations.
Did you Know ?
Approximately 1 in every 10,000 individuals carries a mutation in the c9orf116 gene. Of these, the majority (60-70%) develop symptoms of ALS or FTD.
