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POMT1
Protein O-mannosyl-transferase 1 is an enzyme that in humans is encoded by the ''POMT1'' gene.〔(【引用サイトリンク】 url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10585 )〕 It is a member of the dolichyl-phosphate-mannose-protein mannosyltransferases. == Function ==
O-mannosylation is an important protein modification in eukaryotes that is initiated by an evolutionarily conserved family of protein O-mannosyltransferases. POMT1 shares sequence similarity with protein O-mannosyltransferases of S. cerevisiae. In yeast, these enzymes are located in the endoplasmic reticulum (ER) and are required for cell integrity and cell wall rigidity. POMT1 also shows similarity to the Drosophila 'rotated abdomen' (rt) gene, which when mutated causes defects in myogenesis and muscle structure.(by OMIM )〔 It is associated with limb-girdle muscular dystrophy type LGMD2K.
抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)』 ■ウィキペディアで「POMT1」の詳細全文を読む
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