Multiple coagulation factor deficiency protein 2 (MCFD2)

Multiple coagulation factor deficiency protein 2 (MCFD2) is a small, soluble, 16-kDa EF-hand–containing protein that functions as a subunit of a cargo receptor complex together with ERGIC-53 (LMAN1) in the lumen of the endoplasmic reticulum. This complex is essential for the efficient ER-to-Golgi transport of glycosylated coagulation factors V and VIII, and possibly other select secretory proteins, by recognizing and binding their carbohydrate moieties in a Ca2+-dependent manner[1][2][4][5][6]. Loss-of-function mutations in either MCFD2 or LMAN1 disrupt this trafficking, resulting in the rare, recessive bleeding disorder known as combined deficiency of factors V and VIII (F5F8D)[5][6]. MCFD2 has also been demonstrated to support self-renewal of stem cells in a manner analogous to basic fibroblast growth factor 2 (FGF-2)[3][8]. While MCFD2 is not a classical therapeutic target (such as a receptor, ion channel, or enzyme), its deficiency is clinically significant, and it serves as a research tool and potential biomarker in the context of congenital coagulation disorders and neural stem cell maintenance[3][6][7]. No drugs currently target MCFD2, and its direct modulation in therapy is not established.

Other names

Multiple coagulation factor deficiency 2Neural stem cell-derived neuronal survival proteinF5F8DF5F8D2LMAN1IPSDNSF