Gene: [07p1/AMPH] amphiphysin (Stiff-Man syndrome (MIM:184850) with breast cancer 128kD autoantigen);


PAT

Patients with Stiff-Man syndrome (associated with breast cancer), a rare disease of the central nervous system characterized by progressive rigidity of the body musculature with superimposed painful spasms, were found to be positive for autoantibodies directed against a 128-kD synaptic protein - amphiphysin."

REF

CLO,SEQ,STR,EVO,FUN "David C &: FEBS Lett, 351, 73-79, 1994
CLO,SEQ,FUN "De Camilli P &: J Exp Med, 178, 2219-2223, 1993
CLO,SEQ "Lichte B &: EMBO J, 11, 2521-2530, 1992
LOC,TIS "Yamamoto R &: Hum Mol Genet, 4, 265-268, 1995

SWI

 SWISSPROT: P49418

CLA

coding, basic

LOC

07 p14-13

MIM

 MIM: 600418