C1orf123
c1orf123: A Promising Target for Neurological and Metabolic Diseases
Description:
c1orf123 is a gene located on chromosome 1 that encodes a protein known as C1orf123. This protein is highly conserved across species and is expressed in various tissues, including the brain, liver, and muscles. The exact function of c1orf123 is still being studied, but it is believed to play a role in cellular metabolism, protein regulation, and neuronal development.
Associated Diseases:
Dysregulation of c1orf123 has been implicated in several neurological and metabolic diseases, including:
- Amyotrophic Lateral Sclerosis (ALS): Studies have shown that mutations in c1orf123 are associated with an increased risk of developing ALS, a fatal neurodegenerative disease that affects motor neurons.
- Frontotemporal Dementia (FTD): Mutations in c1orf123 have also been linked to FTD, a group of neurodegenerative disorders that affect the frontal and temporal lobes of the brain.
- Mitochondrial Disorders: c1orf123 has been associated with mitochondrial dysfunction, leading to a range of metabolic problems, such as Leigh syndrome and mitochondrial encephalopathy.
Did you Know ?
- Approximately 1 in 1,000 individuals with ALS carry a mutation in c1orf123.
