Syntaphilin

Syntaphilin is a protein that in humans is encoded by the SNPH gene. It is a neuronal protein that plays a crucial role in the regulation of mitochondrial dynamics, particularly in the axonal trafficking and docking of mitochondria.

Function[edit | edit source]

Syntaphilin acts as a molecular brake for mitochondrial movement and is involved in the anchorage of axonal mitochondria. By anchoring mitochondria, syntaphilin facilitates the provision of energy and calcium buffering at sites of high demand, such as synapses. It also plays a role in the inhibition of the cell death pathway.

Clinical significance[edit | edit source]

Alterations in the expression of syntaphilin have been associated with various neurodegenerative diseases, including Parkinson's disease and Alzheimer's disease. In these conditions, the disruption of mitochondrial distribution and function can lead to neuronal dysfunction and death.

Research[edit | edit source]

Research on syntaphilin has provided insights into the mechanisms of mitochondrial trafficking and its implications in neurodegenerative diseases. Studies have shown that the deletion of the syntaphilin gene leads to an increase in mitochondrial movement, suggesting its role in mitochondrial anchoring.