Amphiphysin
Amphiphysin
Amphiphysin is a protein that plays a crucial role in various cellular processes, particularly in endocytosis and synaptic vesicle recycling. It is primarily found in nerve cells and is involved in the formation of clathrin-coated vesicles.
Structure
Amphiphysin is a cytoplasmic protein that consists of several domains, including an N-terminal BAR (Bin-Amphiphysin-Rvs) domain, a central coiled-coil region, and a C-terminal SH3 (Src homology 3) domain. The BAR domain allows amphiphysin to sense and induce membrane curvature, while the SH3 domain is involved in protein-protein interactions.
Function
One of the main functions of amphiphysin is its role in endocytosis, the process by which cells internalize molecules from the external environment. It interacts with components of the endocytic machinery, such as clathrin and dynamin, to facilitate the formation of clathrin-coated vesicles. These vesicles transport cargo molecules into the cell. Amphiphysin is also important for synaptic vesicle recycling at nerve terminals. It helps to regulate the formation and fission of synaptic vesicles, which are responsible for the release of neurotransmitters during synaptic transmission.
Clinical Relevance
Mutations in the gene encoding amphiphysin have been associated with certain neurological disorders, including some forms of hereditary spastic paraplegia. Disruption of amphiphysin function can lead to defects in endocytosis and synaptic vesicle recycling, which may contribute to neuronal dysfunction.
References
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Contributors: Prab R. Tumpati, MD