MCFD2
{{Short description|Protein-coding gene in humans}}
{{Infobox_gene}}
Multiple coagulation factor deficiency protein 2 is a protein that in humans is encoded by the MCFD2 gene.{{cite journal |vauthors=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 | title = Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex | journal = Nat Genet | volume = 34 | issue = 2 | pages = 220–5 |date=May 2003 | pmid = 12717434 | doi = 10.1038/ng1153 | s2cid = 19281158 }}{{cite journal |vauthors=Deka N, Wong E, Matera AG, Kraft R, Leinwand LA, Schmid CW | title = Repetitive nucleotide sequence insertions into a novel calmodulin-related gene and its processed pseudogene | journal = Gene | volume = 71 | issue = 1 | pages = 123–34 |date=Mar 1989 | pmid = 2463956 | doi =10.1016/0378-1119(88)90084-4 }}{{cite web | title = Entrez Gene: MCFD2 multiple coagulation factor deficiency 2| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=90411}} 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.
References
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Further reading
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- {{cite journal |vauthors=Nyfeler B, Zhang B, Ginsburg D, etal |title=Cargo selectivity of the ERGIC-53/MCFD2 transport receptor complex. |journal=Traffic |volume=7 |issue= 11 |pages= 1473–81 |year= 2007 |pmid= 17010120 |doi= 10.1111/j.1600-0854.2006.00483.x |s2cid=22483569 |url=https://deepblue.lib.umich.edu/bitstream/2027.42/72728/1/j.1600-0854.2006.00483.x.pdf |doi-access=free }}
- {{cite journal |vauthors=Mohanty D, Ghosh K, Shetty S, etal |title=Mutations in the MCFD2 gene and a novel mutation in the LMAN1 gene in Indian families with combined deficiency of factor V and VIII. |journal=Am. J. Hematol. |volume=79 |issue= 4 |pages= 262–6 |year= 2005 |pmid= 16044454 |doi= 10.1002/ajh.20397 |s2cid=30602878 |doi-access=free }}
- {{cite journal |vauthors=Zhang B, Kaufman RJ, Ginsburg D |title=LMAN1 and MCFD2 form a cargo receptor complex and interact with coagulation factor VIII in the early secretory pathway. |journal=J. Biol. Chem. |volume=280 |issue= 27 |pages= 25881–6 |year= 2005 |pmid= 15886209 |doi= 10.1074/jbc.M502160200 |doi-access= free }}
- {{cite journal |vauthors=Hillier LW, Graves TA, Fulton RS, etal |title=Generation and annotation of the DNA sequences of human chromosomes 2 and 4. |journal=Nature |volume=434 |issue= 7034 |pages= 724–31 |year= 2005 |pmid= 15815621 |doi= 10.1038/nature03466 |bibcode=2005Natur.434..724H |doi-access= free }}
- {{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 }}
- {{cite journal |vauthors=Spatuzza C, Renna M, Faraonio R, etal |title=Heat shock induces preferential translation of ERGIC-53 and affects its recycling pathway. |journal=J. Biol. Chem. |volume=279 |issue= 41 |pages= 42535–44 |year= 2004 |pmid= 15292203 |doi= 10.1074/jbc.M401860200 |doi-access= free }}
- {{cite journal |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |doi-access= free }}
- {{cite journal |vauthors=Toda H, Tsuji M, Nakano I, etal |title=Stem cell-derived neural stem/progenitor cell supporting factor is an autocrine/paracrine survival factor for adult neural stem/progenitor cells. |journal=J. Biol. Chem. |volume=278 |issue= 37 |pages= 35491–500 |year= 2003 |pmid= 12832409 |doi= 10.1074/jbc.M305342200 |doi-access= free }}
- {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |bibcode=2002PNAS...9916899M |doi-access=free }}
- {{cite journal |vauthors=Nichols WC, Terry VH, Wheatley MA, etal |title=ERGIC-53 gene structure and mutation analysis in 19 combined factors V and VIII deficiency families. |journal=Blood |volume=93 |issue= 7 |pages= 2261–6 |year= 1999 |pmid= 10090935 }}
- {{cite journal |vauthors=Neerman-Arbez M, Johnson KM, Morris MA, etal |title=Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency. |journal=Blood |volume=93 |issue= 7 |pages= 2253–60 |year= 1999 |pmid= 10090934 |doi= 10.1182/blood.V93.7.2253}}
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