...MCFD2. Growing evidence indicates that these two proteins form a complex recycling between the endoplasmic reticulum (ER...
...MCFD2, it transports coagulation factors V and VIII. Mutations in LMAN1 and MCFD2 can cause combined deficiency of facto...
...MCFD2 antibody did not co-immunoprecipitate the mutant LMAN1 with MCFD2 in lymphoblasts from the patient, suggesting the...
...MCFD2), involved in the FV and FVIII intracellular transport rather than by DNA defects in the genes that encode the cor...
...MCFD2) rather than DNA defects in the genes that encode the corresponding coagulation factors. F5F8D is estimated to be ...
...MCFD2) as the cause of F5F8D. Though clinically indistinguishable, MCFD2 mutations generally exhibit lower levels of FV ...
...MCFD2 genes. Here we report the first Polish family with F5F8 deficiency due to a mutation in the MCFD2 gene. The propos...
...MCFD2 in the secretory pathway is comparatively unclear. MCFD2 has been shown to bind both ERGIC-53 and the blood coagul...
...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...
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