C3orf58
Understanding C3orf58: A Gene Linked to Neurodegenerative Disorders
Description
C3orf58 (chromosome 3 open reading frame 58) is a gene located on chromosome 3 in humans. It encodes a protein called chromosome 3 open reading frame 58 protein (C3orf58p), which plays a crucial role in maintaining neuronal health and function. C3orf58p is highly expressed in the brain, particularly in the hippocampus and cerebellum.
Associated Diseases
Mutations in the C3orf58 gene have been strongly linked to several neurodegenerative disorders, including:
- Frontotemporal dementia (FTD): FTD is a group of brain disorders that affect the frontal and temporal lobes, leading to changes in behavior, personality, and language.
- Amyotrophic lateral sclerosis (ALS): ALS is a progressive neurodegenerative disease that affects motor neurons, leading to muscle weakness and paralysis.
- Multiple sclerosis (MS): MS is an autoimmune disease that affects the central nervous system, causing inflammation and damage to the myelin sheath surrounding nerve fibers.
Did you Know ?
According to research, mutations in the C3orf58 gene are found in approximately:
- 10-15% of individuals with FTD
- 5-10% of individuals with ALS
- 1-2% of individuals with MS
