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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.
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Protein Aliases: Multiple coagulation factor deficiency protein 2; Neural stem cell-derived neuronal survival protein
Gene Aliases: F5F8D; F5F8D2; LMAN1IP; MCFD2; SDNSF
UniProt ID: (Human) Q8NI22
Entrez Gene ID: (Human) 90411
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