Recombinant Human Multiple coagulation factor deficiency protein 2 (MCFD2)

1. Combined deficiency of factors V and VIII by chance coinheritance of parahaemophilia and haemophilia A, but not by mutations of either LMAN1 or MCFD2 PMID: 29082580
2. A novel missense mutation, namely Asp81Ala in exon 3 of MCFD2 gene, is firstly reported and described as a cause of combined FV and FVIII deficiency in a Chinese family. PMID: 25354775
3. Studies indicate that the LMAN1-CRD contains distinct, separable binding sites for both its partner protein MCFD2 and the cargo proteins FV/FVIII. PMID: 23852824
4. Results indicate the biological roles of MCFD2 in both vertebrates and invertebrates. PMID: 23660967
5. Data indicate that together with its soluble coreceptor MCFD2, LMAN1 transports coagulation factors V (FV) and VIII (FVIII). PMID: 23709226
6. Mutations in MCFD2 lead to F5F8D (combined deficiency of factor V And factor VIII) due to alterations in MCFD2-LMAN1 complex of coat protein (COP)II complex trafficking machinery; 30% of F5F8D patients have mutations in MCFD2. [REVIEW] PMID: 22764119
7. We present the identification of a novel MCFD2 gene missense mutation by direct sequencing. PMID: 22535353
8. The study reports for the first time a case of Combined factor V and factor VIII deficiency disorder in a Tunisian family, resulting from two novel mutations in exon 3 of the MCFD2 gene. PMID: 20004600
9. Data present the crystal structure of the LMAN1/MCFD2 complex and relate it to patient mutations. Circular dichroism data show that the majority of the substitution mutations give rise to a disordered or severely destabilized MCFD2 protein. PMID: 20138881
10. Data show that mutations in MCFD2 that disrupt the tertiary structure and abolish LMAN1 binding still retain the FV/FVIII binding activities, suggesting that this interaction is independent of Ca(2+)-induced folding of the protein. PMID: 20007547
11. inactivating mutations in MCFD2 cause combined deficiency of factor V and factor VIII with a phenotype indistinguishable from that caused by mutations in LMAN1 PMID: 12717434
12. ERGIC-53 and MCFD2 have important functions during cellular response to stress conditions PMID: 15292203
13. LMAN1 and MCFD2 form a cargo receptor complex and the primary sorting signals residing in the B domain direct the binding of factor VIII PMID: 15886209
14. Mutations in (LMAN1) and (MCFD2), have been found to be responsible for the dual deficiency of FV and FVIII. PMID: 16044454
15. Results indicate that ERGIC-53 can bind cargo glycoproteins in an MCFD2-independent fashion and suggest that MCFD2 is a recruitment factor for blood coagulation factors V and VIII. PMID: 17010120
16. phenotype & genotype analyses in 9 Indian patients with combined FV & FVIII deficiency; 2 MCFD2 gene mutations, c.149 + 5G > A splice defect & the p.E71fs accounted for >77% of patients screened; data suggest multiple hotspots of mutations in MCFD2 gene PMID: 17610559
17. The newly identified neuronal stem cell factor, MCFD2 (SDNSF), were expressed in seminoma cells and they were only present in gonocytes up to the second trimester. PMID: 17785371
18. MCFD2 may play a primary role in the export of FV and FVIII from the ER, with the impact of LMAN1 mediated indirectly through its interaction with MCFD2 PMID: 18391077
19. These results provide an explanation for the previously observed calcium dependence of the MCFD2-ERGIC-53 interaction. PMID: 18590741
20. 2 related patients were homozygous for a new missense mutation in the 2d elongation factor hand domain. Tyr135Asn is the 3d missense mutation found in the MCFD2 gene. It may disrupt the MCFD2-LMAN1 interaction. PMID: 18685427

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HGNC: 18451

OMIM: 607788

KEGG: hsa:90411

STRING: 9606.ENSP00000317271

UniGene: Hs.662152