TMEM165

Description

The TMEM165 gene, also known as ANO5, encodes a transmembrane protein involved in calcium-activated chloride channel activity. This protein plays a crucial role in various cellular functions, including ion transport, cell volume regulation, and neurotransmitter release. Its dysfunction can lead to severe neuromuscular disorders, highlighting its importance in maintaining proper muscle function. Recent research has uncovered its potential involvement in other diseases, making it a promising target for therapeutic development.

Associated Diseases

• Myopathy with early respiratory failure (MERF)
• Distal myopathy with rimmed vacuoles (DMRV)
• Congenital myasthenic syndrome type 5 (CMS5)
• Other muscle disorders

Did you know?

TMEM165 is unique among its family members as it lacks the typical ‘TMEM165 signature‘ sequence, making it intriguing for further investigation.