C9orf135
c9orf135: Unveiling the Role of an Enigmatic Gene
Description
c9orf135 is a gene located on the long arm of chromosome 9. It encodes a protein of unknown function, but recent research has shed light on its potential involvement in various diseases and biological processes.
Associated Diseases
Mutations in the c9orf135 gene have been linked to several neurological and developmental disorders, including:
- Amyotrophic Lateral Sclerosis (ALS): c9orf135 mutations account for approximately 1-2% of cases of ALS, a fatal neurodegenerative disease that affects motor neurons.
- Frontotemporal Dementia (FTD): Mutations in c9orf135 have also been associated with a subset of FTD, a group of degenerative brain diseases that affect behavior, language, and cognition.
- Intellectual Disability: Rare mutations in the c9orf135 gene can cause mild to severe intellectual disability.
- Autism Spectrum Disorder (ASD): Some studies have suggested a potential association between c9orf135 disruptions and ASD, although more research is needed to confirm this link.
Did you Know ?
A notable statistic related to c9orf135 is its prevalence in the general population:
- The estimated frequency of c9orf135 mutations in the general population is approximately 1 in 100,000 individuals.
- However, in individuals with ALS, the prevalence of c9orf135 mutations is significantly higher, estimated at around 1 in 200 individuals.
