Multiple coagulation factor deficiency protein 2 (MCFD2) is localized in the endoplasmic reticulum-Golgi intermediate compartment (ERGIC) through a direct, calcium-dependent interaction with LMAN1. The MCFD2-LMAN1 complex forms a specific cargo receptor for the transport of selected proteins from the endoplasmic reticulum to the Golgi apparatus. Mutations in the MCFD2 gene may cause of factor V and factor VIII combined deficiency (F5F8D). F5F8D is an autosomal recessive human bleeding disorder characterized by the reduction of both clotting proteins.
Multiple coagulation factor deficiency protein 2 homolog; neural stem cell derived neuronal survival protein; Neural stem cell-derived neuronal survival protein
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