C9orf89
c9orf89: A Gene of Intrigue in Human Health and Disease
Description
c9orf89 is a gene located on the 9th chromosome of the human genome. It encodes a protein of unknown function, but research suggests its involvement in various biological processes.
Associated Diseases
Mutations in c9orf89 have been linked to several disorders, including:
- Amyotrophic Lateral Sclerosis (ALS): c9orf89 mutations are the most common genetic cause of familial ALS, a fatal neurodegenerative disease.
- Frontotemporal Dementia (FTD): Mutations in c9orf89 have also been associated with certain types of FTD.
- Multiple System Atrophy (MSA): c9orf89 mutations are known to increase the risk of developing MSA, a progressive neurological disorder that affects movement and autonomic functions.
Did you Know ?
Approximately 6% of familial ALS cases are caused by mutations in c9orf89, making it one of the most prevalent genetic causes of this disease.
