C17orf85
c17orf85: A Gene Linked to Neurodegenerative Diseases
Description
c17orf85, also known as chromosome 17 open reading frame 85, is a gene located on the short arm of chromosome 17 (17p13.3). It encodes a protein of unknown function that is primarily expressed in the brain.
Associated Diseases
Mutations in the c17orf85 gene have been linked to several neurodegenerative diseases, including:
- Amyotrophic lateral sclerosis (ALS): ALS is a fatal disease that affects the motor neurons controlling voluntary movement. Mutations in c17orf85 have been identified in approximately 1-2% of ALS cases.
- Frontotemporal dementia (FTD): FTD is a group of disorders that affect the frontal and temporal lobes of the brain, leading to progressive decline in cognition and behavior. Mutations in c17orf85 have been identified in about 3-5% of FTD cases.
- Spinocerebellar ataxia (SCA): SCA is a group of inherited neurological disorders that affect the cerebellum and spinal cord, causing impaired coordination and balance. Mutations in c17orf85 have been linked to SCA type 17, a rare form of SCA.
Did you Know ?
- Studies have shown that the risk of developing ALS is increased by 40% in individuals with a mutation in the c17orf85 gene.
