AMPH

This gene encodes a protein associated with the cytoplasmic surface of synaptic vesicles. A subset of patients with stiff-man 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. Additional splice variants have been described, but their full length sequences have not been determined. A pseudogene of this gene is found on chromosome 11.[provided by RefSeq, Nov 2010]

Amphiphysin

May participate in mechanisms of regulated exocytosis in synapses and certain endocrine cell types. May control the properties of the membrane associated cytoskeleton.

Chemical synaptic transmission Source: ProtInc
Endocytosis Source: ProtInc
Membrane organization Source: Reactome
Synaptic vesicle endocytosis Source: GO_Central

Cytoskeleton; Synaptic vesicle membrane