TMEM216

Description

TMEM216 (Transmembrane Protein 216) is a gene located on chromosome 19 in humans. It encodes a protein that is predicted to be an integral membrane protein, suggesting its involvement in cellular signaling, transport, or structural integrity. The exact function of TMEM216 is still under investigation, but studies have linked it to various cellular processes, including neuronal development and function. Notably, mutations in TMEM216 have been associated with several neurological disorders, highlighting its potential role in maintaining brain health.

Associated Diseases

• Neurodevelopmental disorders (e.g., intellectual disability, autism spectrum disorder)
• Epilepsy
• Schizophrenia
• Spinal muscular atrophy

Did you know?

TMEM216 is expressed in various tissues throughout the body, including the brain, heart, and liver, suggesting its potential involvement in multiple physiological functions.