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MCFD2
Multiple coagulation factor deficiency protein 2 is a protein that in humans is encoded by the ''MCFD2'' gene.〔(【引用サイトリンク】 url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=90411 )〕 Mutations in ''MCFD2'' cause the combined deficiency of factor V and factor VIII (F5F8D), a recessive bleeding disorder. MCFD2 and ERGIC-53 (or LMAN1) form a protein complex and serve as a cargo receptor to transport FV and FVIII from the ER to the Golgi body. Mutations in ''LMAN1'' gene (encoding ERGIC-53 or LMAN1) also cause F5F8D.
==References==
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「MCFD2」の詳細全文を読む
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