...MCFD2 genes. Here we report the first Polish family with F5F8 deficiency due to a mutation in the MCFD2 gene. The propos...
...MCFD2. LMAN1 encodes ERGIC-53, a cargo receptor with an L-type lectin domain, and MCFD2 is a EF-hand-containing protein....
...MCFD2 and 2 in LMAN1. We show that a novel MCFD2 missense mutation identified here (D81Y) and 2 previously reported muta...
...MCFD2 in the secretory pathway is comparatively unclear. MCFD2 has been shown to bind both ERGIC-53 and the blood coagul...
...MCFD2 complex, is required for the efficient secretion of coagulation factors V and VIII. Studies of this complex, coupl...
...MCFD2 by short interference RNA-based knockdown. In the absence of ERGIC-53, MCFD2 was secreted, whereas knocking down M...
...MCFD2 cause combined deficiency of factor V and factor VIII (F5F8D). LMAN1 and MCFD2 form a protein complex that functio...
...MCFD2) that encode components of a stable protein complex. This complex is localized to the secretory pathway of the cel...
...MCFD2, and to ERGIC-53's cargo glycoprotein cathepsin Z. YFP PCA analysis revealed the oligomerization of ERGIC-53 and i...
...MCFD2 are present primarily in complex with each other with a 1:1 stoichiometry, although MCFD2 is not required for olig...
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