TMEM257
tmem257 Gene: Unraveling the Enigma of Neurological Disorders
Description
The tmem257 gene, located on chromosome 6p21.33, encodes a transmembrane protein known as transmembrane protein 257 (TMEM257). This protein is predominantly expressed in the brain and plays a crucial role in the maintenance of neuronal health and function. TMEM257 is involved in various cellular processes, including protein trafficking, synaptic plasticity, and immune responses within the central nervous system.
Associated Diseases
Dysfunction or mutations in the tmem257 gene have been linked to several neurological disorders, including:
- Alzheimer's disease: Studies have shown that genetic variations in tmem257 increase the risk of developing late-onset Alzheimer's disease.
- Parkinson's disease: Certain mutations in tmem257 have been associated with an increased susceptibility to Parkinson's disease, particularly in individuals with a family history of the condition.
- Amyotrophic lateral sclerosis (ALS): Mutations in tmem257 have been identified in a subset of patients with ALS, a progressive neurodegenerative disorder that affects motor neurons.
- Multiple sclerosis: Researchers have suggested that alterations in tmem257 may play a role in the development of multiple sclerosis, an autoimmune disorder that affects the central nervous system.
Did you Know ?
Approximately 2-5% of individuals with late-onset Alzheimer's disease carry genetic variants in the tmem257 gene, indicating the potential significance of this gene in the pathogenesis of the disease.
