MCFD2 explained

Multiple coagulation factor deficiency protein 2 is a protein that in humans is encoded by the MCFD2 gene.^{[1] [2] [3]} Mutations in MCFD2 cause the combined deficiency of factor V and factor VIII (F5F8D), a recessive bleeding disorder. MCFD2 and ERGIC-53 (or LMAN1) form a protein complex and serve as a cargo receptor to transport FV and FVIII from the ER to the Golgi body. Mutations in LMAN1 gene (encoding ERGIC-53 or LMAN1) also cause F5F8D.

Further reading

• Nyfeler B, Zhang B, Ginsburg D, etal . Cargo selectivity of the ERGIC-53/MCFD2 transport receptor complex. . Traffic . 7 . 11 . 1473–81 . 2007 . 17010120 . 10.1111/j.1600-0854.2006.00483.x . 22483569 . free .
• Mohanty D, Ghosh K, Shetty S, etal . Mutations in the MCFD2 gene and a novel mutation in the LMAN1 gene in Indian families with combined deficiency of factor V and VIII. . Am. J. Hematol. . 79 . 4 . 262–6 . 2005 . 16044454 . 10.1002/ajh.20397 . 30602878 . free .
• Zhang B, Kaufman RJ, Ginsburg D . LMAN1 and MCFD2 form a cargo receptor complex and interact with coagulation factor VIII in the early secretory pathway. . J. Biol. Chem. . 280 . 27 . 25881–6 . 2005 . 15886209 . 10.1074/jbc.M502160200 . free .
• Hillier LW, Graves TA, Fulton RS, etal . Generation and annotation of the DNA sequences of human chromosomes 2 and 4. . Nature . 434 . 7034 . 724–31 . 2005 . 15815621 . 10.1038/nature03466 . 2005Natur.434..724H . free .
• Gerhard DS, Wagner L, Feingold EA, etal . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 .
• Spatuzza C, Renna M, Faraonio R, etal . Heat shock induces preferential translation of ERGIC-53 and affects its recycling pathway. . J. Biol. Chem. . 279 . 41 . 42535–44 . 2004 . 15292203 . 10.1074/jbc.M401860200 . free .
• Ota T, Suzuki Y, Nishikawa T, etal . Complete sequencing and characterization of 21,243 full-length human cDNAs. . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . free .
• Toda H, Tsuji M, Nakano I, etal . Stem cell-derived neural stem/progenitor cell supporting factor is an autocrine/paracrine survival factor for adult neural stem/progenitor cells. . J. Biol. Chem. . 278 . 37 . 35491–500 . 2003 . 12832409 . 10.1074/jbc.M305342200 . free .
• Strausberg RL, Feingold EA, Grouse LH, etal . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .
• Nichols WC, Terry VH, Wheatley MA, etal . ERGIC-53 gene structure and mutation analysis in 19 combined factors V and VIII deficiency families. . Blood . 93 . 7 . 2261–6 . 1999 . 10090935 .
• Neerman-Arbez M, Johnson KM, Morris MA, etal . Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency. . Blood . 93 . 7 . 2253–60 . 1999 . 10090934 . 10.1182/blood.V93.7.2253.

Notes and References

1. Zhang B, Cunningham MA, Nichols WC, Bernat JA, Seligsohn U, Pipe SW, McVey JH, Schulte-Overberg U, de Bosch NB, Ruiz-Saez A, White GC, Tuddenham EG, Kaufman RJ, Ginsburg D . Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex . Nat Genet . 34 . 2 . 220–5 . May 2003 . 12717434 . 10.1038/ng1153 . 19281158 .
2. Deka N, Wong E, Matera AG, Kraft R, Leinwand LA, Schmid CW . Repetitive nucleotide sequence insertions into a novel calmodulin-related gene and its processed pseudogene . Gene . 71 . 1 . 123–34 . Mar 1989 . 2463956 . 10.1016/0378-1119(88)90084-4 .
3. Web site: Entrez Gene: MCFD2 multiple coagulation factor deficiency 2.