TMEM107
Description
TMEM107, also known as transmembrane protein 107, is a gene that encodes a protein involved in various cellular processes. Its precise function is not fully understood, but studies suggest it plays a role in protein transport, membrane trafficking, and cell signaling. This protein is localized to the endoplasmic reticulum (ER), a vital organelle responsible for protein synthesis and modification. Mutations in the TMEM107 gene have been associated with several genetic disorders, highlighting its significance in human health. Understanding the intricacies of TMEM107‘s function and its impact on disease is crucial for developing effective therapies.
Associated Diseases
- Spinal Muscular Atrophy (SMA)
- Familial Spastic Paraplegia (FSP)
- Cerebral Palsy
- Intellectual Disability
- Epilepsy
Did you know?
TMEM107 is highly conserved across different species, suggesting its importance for basic cellular functions.
