title: Primary structure of human amphiphysin, the dominant autoantigen of paraneoplastic stiff-man syndrome, and mapping of its gene (AMPH) to chromosome 7p13-p14.
abstract: Amphiphysin is a protein peripherally associated with synaptic vesicles. It is expressed in many neurons, certain endocrine cell types, and spermatocytes. Autoantibodies against amphiphysin occur in patients afflicted with a rare neurologic autoimmune disease, paraneoplastic Stiff-Man syndrome. To provide a basis for the understanding of anti-amphiphysin autoimmunity, we have cloned cDNAs and determined the primary structure of human amphiphysin. Comparison with chicken amphiphysin defines domains of low and high amino acid sequence conservation. As a candidate for heritable disorders of the nervous system, endocrine tissues or male fertility, the human amphiphysin gene was mapped to chromosome 7, region p13-p14.
authors.affiliation: Institut für Physiologische Chemie, Medizinische Fakultät, Ruhr-Universität Bochum, Germany.
authors.forename: R
authors.initials: R
authors.lastname: Yamamoto
authors.forename: X
authors.initials: X
authors.lastname: Li
authors.forename: S
authors.initials: S
authors.lastname: Winter
authors.forename: U
authors.initials: U
authors.lastname: Francke
authors.forename: M W
authors.initials: MW
authors.lastname: Kilimann
mesh_terms: D000818:Animals; D001324:Autoantigens / Q000235:genetics; D001483:Base Sequence; D002645:Chickens; D002874:Chromosome Mapping; D002897:Chromosomes, Human, Pair 7; D003001:Cloning, Molecular; D006224:Cricetinae; D018076:DNA, Complementary; D005799:Genes, Dominant; D006801:Humans; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins / Q000235:genetics* / Q000276:immunology; D017386:Sequence Homology, Amino Acid; D016750:Stiff-Person Syndrome / Q000235:genetics*
chemical_list: D001324:Autoantigens; D018076:DNA, Complementary; D009419:Nerve Tissue Proteins; C075637:amphiphysin