TMEM53
Description
TMEM53, also known as transmembrane protein 53, is a gene that encodes a protein with a critical role in cellular processes, particularly in the nervous system. The TMEM53 protein is localized to the endoplasmic reticulum (ER), a cellular organelle responsible for protein folding and trafficking. Mutations in the TMEM53 gene have been associated with a range of neurological disorders, highlighting its importance in maintaining neuronal health.
Associated Diseases
- Spinocerebellar ataxia type 31 (SCA31)
- Hereditary spastic paraplegia (HSP)
- Infantile epileptic encephalopathy
- Neurodevelopmental disorders
Did you know?
The TMEM53 protein is highly conserved across different species, suggesting its fundamental role in cellular function.
