C3orf35
c3orf35: An Enigma in Neurodegenerative Diseases
Description
c3orf35 is a gene located on chromosome 3 and encodes a protein with unknown function. This protein is expressed in various brain regions and plays a role in cellular processes such as RNA splicing and mRNA stability.
Associated Diseases
Mutations in the c3orf35 gene have been linked to several neurodegenerative diseases, including:
- Amyotrophic lateral sclerosis (ALS): ALS is a fatal disorder that affects motor neurons, leading to progressive paralysis and muscle weakness. Studies have identified mutations in c3orf35 in up to 2% of ALS cases.
- Frontotemporal dementia (FTD): FTD is a group of diseases that affect the frontal and temporal lobes of the brain, causing cognitive and behavioral changes. Mutations in c3orf35 have been linked to familial forms of FTD, particularly the behavioral variant (bvFTD).
- Parkinson's disease: Parkinson's disease is a movement disorder caused by the degeneration of dopamine-producing neurons in the substantia nigra. Rare mutations in c3orf35 have been identified in some Parkinson's disease patients.
Did you Know ?
Approximately 1 in 50 individuals with ALS carry a mutation in the c3orf35 gene.
