Physical and functional association of human protein o-mannosyltransferases 1 and 2
作者： Keiko Akasaka-Manya , Hiroshi Manya , Ai Nakajima , Masao Kawakita , Tamao Endo
关键词: Mannosyltransferases 、 Gene 、 Enzyme 、 Eye abnormality 、 Phenotype 、 Mutant 、 Congenital muscular dystrophy 、 In vivo 、 Molecular biology 、 Biology
摘要: A defect of protein O-mannosylation causes congenital muscular dystrophy with brain malformation and structural eye abnormalities, so-called Walker-Warburg syndrome. Protein is catalyzed by O-mannosyltransferase 1 (POMT1) its homologue, POMT2. Coexpression POMT1 POMT2 required to show activity. Here we have shown that forms a complex the possesses Results indicate associate physically functionally in vivo. Recently, three mutations were reported gene patients who showed milder phenotypes than typical We coexpressed these mutant POMT1s found none them had any However, all mutants, including previously identified coprecipitated These results could form heterocomplexes but such complexes are insufficient for enzymatic
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