C9orf106
C9orf106: An Emerging Gene with Intriguing Implications
Description
C9orf106, also known as PAG1, is an enigmatic gene that has captured the attention of researchers in recent years. It resides on chromosome 9p24.1 and encodes a protein of unknown function. Despite its mysterious nature, studies have begun to unravel its potential role in various biological processes and associated diseases.
Associated Diseases
Intriguingly, C9orf106 has been implicated in several neurological and developmental disorders:
- Amyotrophic Lateral Sclerosis (ALS): Autosomal dominant mutations in C9orf106 are linked to a rare form of familial ALS, a devastating neurodegenerative disease.
- Frontotemporal Dementia (FTD): Mutations in C9orf106 have also been associated with FTD, a type of neurodegenerative disease that affects behavior and cognition.
- Autism Spectrum Disorder (ASD): Some studies suggest an association between C9orf106 variations and an increased risk of ASD, a developmental disorder characterized by impaired social interaction and communication.
Did you Know ?
Approximately 5-10% of familial ALS cases are attributed to mutations in C9orf106, highlighting its significant impact on this rare but devastating disease.
