Amphiphysin

A subset of patients with stiff person syndrome who were also affected by breast cancer are positive for autoantibodies against this protein.

Alternate splicing of this gene results in two transcript variants encoding different isoforms.

In the brain, its primary function is thought to be the recruitment of dynamin to sites of clathrin-mediated endocytosis.

A ubiquitous splice form of amphiphysin-2 (BIN1) that does not contain clathrin or adaptor interactions is highly expressed in muscle tissue and is involved in the formation and stabilization of the T-tubule network.

In other tissues amphiphysin is likely involved in other membrane bending and curvature stabilization events.