TMEM230

TMEM230 is a gene that encodes a protein in humans. It is located on chromosome 20 and is associated with Parkinson's disease.

Function

The TMEM230 gene encodes a protein that is a member of the transmembrane protein family. This protein is thought to play a role in vesicular trafficking, specifically in the endosomal system. The protein is localized to the trans-Golgi network, where it is believed to function in the transport of vesicles to the plasma membrane.

Clinical significance

Mutations in the TMEM230 gene have been associated with the development of Parkinson's disease. A study published in 2016 identified a mutation in this gene in a large family with autosomal dominant Parkinson's disease. This finding suggests that TMEM230 may play a role in the pathogenesis of this disease.

Research

Research into the TMEM230 gene and its associated protein is ongoing. Scientists are particularly interested in understanding how mutations in this gene contribute to the development of Parkinson's disease. This research could potentially lead to new treatments for this debilitating condition.

See also

• Parkinson's disease
• Transmembrane protein
• Endosomal system
• Trans-Golgi network

References

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