TMEM138

Description

The TMEM138 gene, located on chromosome 16, encodes a transmembrane protein of unknown function. Its expression is widespread throughout the body, particularly in the brain, heart, and skeletal muscle. TMEM138 is thought to play a role in cellular signaling, transport, and membrane integrity. While its exact function remains elusive, mutations in this gene have been linked to several neurological and developmental disorders, highlighting its importance in maintaining normal cellular processes. Studies are ongoing to further elucidate the role of TMEM138 in health and disease, with the aim of developing new diagnostic and therapeutic strategies.

Associated Diseases

• Neurodevelopmental disorders (e.g., intellectual disability, autism spectrum disorder)
• Epilepsy
• Cerebral palsy
• Spinal muscular atrophy
• Cardiomyopathy
• Myopathies

Did you know?

TMEM138 is highly conserved across different species, suggesting its crucial role in fundamental biological processes.