PRIMARY STRUCTURE OF HUMAN AMPHIPHYSIN, THE DOMINANT - AUTOANTIGEN OFPARANEOPLASTIC STIFF-MAN SYNDROME, AND MAPPING OF ITS GENE (AMPH) TO CHROMOSOME 7P13-P14

Amphiphysin is a protein peripherally associated with synaptic vesicle s. It is expressed in many neurons, certain endocrine cell types, and spermatocytes. Autoantibodies against amphiphysin occur in patients af flicted with a rare neurologic autoimmune disease, paraneoplastic Stif f-Man syndrome. To provide a basis for the understanding of anti-amphi physin autoimmunity, we have cloned cDNAs and determined the primary s tructure of human amphiphysin. Comparison with chicken amphiphysin def ines domains of low and high amino acid sequence conservation. As a ca ndidate for heritable disorders of the nervous system, endocrine tissu es or male fertility, the human amphiphysin gene was mapped to chromos ome 7, region p13-p14.