Mutation in Rab3 GTPase-Activating Protein (RAB3GAP) Noncatalytic Subunit in a Kindred with Martsolf Syndrome
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چکیده
منابع مشابه
Molecular cloning and characterization of the noncatalytic subunit of the Rab3 subfamily-specific GTPase-activating protein.
We recently purified and characterized from rat brain a GTPase-activating protein (GAP) specific for the Rab3 small G protein subfamily implicated in Ca2+-dependent exocytosis. Rab3 GAP showed two bands with Mr of about 130,000 (p130) and 150,000 (p150) on SDS-polyacrylamide gel electrophoresis. p130, but not p150, showed the catalytic activity. Because p150 was likely the subunit of Rab3 GAP, ...
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Cristinel P. MÎINEA*1, Hiroyuki SANO*1, Susan KANE*, Eiko SANO*, Mitsunori FUKUDA†, Johan PERÄNEN‡, William S. LANE§ and Gustav E. LIENHARD*2 *Department of Biochemistry, Dartmouth Medical School, Hanover, NH 03755, U.S.A., †Fukuda Initiative Research Unit, RIKEN, 2-1 Hirosawa, Wako, Saitama 351-0198, Japan, ‡Institute of Biotechnology, Program in Cellular Biotechnology, FIN-00014, University o...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2006
ISSN: 0002-9297
DOI: 10.1086/502681