Description
Product Characteristics:
Amphiphysin is 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 auto against this protein. Alternate splicing of this gene results in two transcript variants (Amphiphysin 1 and Amphiphysin 2) encoding different isoforms. Additional splice variants have been described, but their full length sequences have not been determined.
Subcellular location: Cytoplasm, Cell membrane
Synonyms: Amphiphysin, Amp, AMPH 1, AMPH1, Amphiphysin Stf-Man syndrome with breast cancer 128kD autoantigen, Amphiphysin Stf-Man syndrome with breast cancer 128 kDa autoantigen, Amphiphysin I, CG8604, Damp, dAmph, Dmel\CG8604, HGNC:471, MGC49429, Stf man syndrome with breast cancer 128kD autoantigen, Stf man syndrome with breast cancer 128 kDa autoantigen, AMPH_HUMAN.
Target Information: 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]