TMEM251
Description
TMEM251, a gene located on chromosome 17, encodes a transmembrane protein with crucial roles in cell signaling and membrane trafficking. Its precise function remains an active area of research, but it‘s thought to contribute to various cellular processes, including neuronal development, synaptic transmission, and immune response. Mutations in TMEM251 have been linked to several neurological disorders, highlighting its importance in maintaining proper brain function.
Associated Diseases
- Spinocerebellar Ataxia Type 35 (SCA35)
- Hereditary Spastic Paraplegia (HSP)
- Intellectual Disability
- Epilepsy
Did you know?
TMEM251 is highly expressed in the brain, particularly in the cerebellum, which plays a critical role in motor coordination and balance.
