Amphiphysin I Rabbit Polyclonal Antibody

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], disease:Antibodies against AMPH are detected in patients with stiff-man syndrome, a rare disease of the central nervous system characterized by progressive rigidity of the body musculature with superimposed painful spasms., function:May participate in mechanisms of regulated exocytosis in synapses and certain endocrine cell types. May control the properties of the membrane associated cytoskeleton., similarity:Contains 1 BAR domain., similarity:Contains 1 SH3 domain., subunit:Heterodimer with BIN1. Binds SH3GLB1 and AP2A2., tissue specificity:Neurons, certain endocrine cell types and spermatocytes.