Primary structure of human amphiphysin, the dominant autoantigen of paraneoplastic stiff-man syndrome, and mapping of its gene (AMPH) to chromosome 7p13-p14.
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.
Yamamoto
R
R
Institut für Physiologische Chemie, Medizinische Fakultät, Ruhr-Universität Bochum, Germany.
Li
X
X
Winter
S
S
Francke
U
U
Kilimann
M W
MW
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*
D001324:Autoantigens; D018076:DNA, Complementary; D009419:Nerve Tissue Proteins; C075637:amphiphysin