TMEM222

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Description

TMEM222, also known as transmembrane protein 222, is a gene that encodes a protein located in the endoplasmic reticulum (ER) membrane. This protein plays a crucial role in various cellular processes, including protein trafficking, lipid metabolism, and calcium homeostasis. While its exact function is still under investigation, research suggests that TMEM222 mutations can lead to several genetic disorders, highlighting its significance in maintaining cellular health.

Associated Diseases

• Hereditary Spastic Paraplegia (HSP)
• Spinocerebellar Ataxia (SCA)
• Dystonia
• Neurodevelopmental Disorders

Did you know?

Mutations in the TMEM222 gene have been linked to an intriguing phenomenon called ‘anticipation,‘ where the severity of the disease increases with subsequent generations.