TMEM70 : transmembrane protein 70

Description

The TMEM70 gene encodes a transmembrane protein, TMEM70, whose precise function remains largely unknown. It is located on chromosome 11 and has been implicated in a variety of biological processes, including cell growth, differentiation, and metabolism. TMEM70 interacts with other proteins and may play a role in intracellular signaling pathways. Notably, mutations in the TMEM70 gene have been linked to several human diseases, suggesting its crucial role in maintaining cellular homeostasis and overall health.

Associated Diseases

• Spinocerebellar ataxia type 17 (SCA17)
• Autosomal dominant cerebellar ataxia (ADCA)
• Intellectual disability
• Epilepsy

Did you know?

Mutations in the TMEM70 gene have been found to be particularly prevalent in certain populations, suggesting potential geographical influences on disease susceptibility.