Recombinant Human Multiple coagulation factor deficiency protein 2 (MCFD2)

中文名稱：

人MCFD2重組蛋白
貨號：

CSB-YP847752HU
規格：
來源：

Yeast
其他：

中文名稱：

人MCFD2重組蛋白
貨號：

CSB-EP847752HU
規格：
來源：

E.coli
其他：

中文名稱：

人MCFD2重組蛋白
貨號：

CSB-EP847752HU-B
規格：
來源：

E.coli
共軛：

Avi-tag Biotinylated
E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.
其他：

中文名稱：

人MCFD2重組蛋白
貨號：

CSB-BP847752HU
規格：
來源：

Baculovirus
其他：

中文名稱：

人MCFD2重組蛋白
貨號：

CSB-MP847752HU
規格：
來源：

Mammalian cell
其他：

產品詳情
產品評價
靶點詳情

產品詳情

純度：

>85% (SDS-PAGE)
基因名：

MCFD2
Uniprot No.：

Q8NI22
別名：

1810021C21Rik; DKFZp686G21263; F5F8D; LMAN1IP; MCFD 2; Mcfd2; MCFD2_HUMAN; Multiple coagulation factor deficiency protein 2; Neural stem cell derived neuronal survival protein; Neural stem cell-derived neuronal survival protein; SDNSF
種屬：

Homo sapiens (Human)
蛋白長度：

Full Length of Mature Protein
表達區域：

27-146
氨基酸序列

EEPA ASFSQPGSMG LDKNTVHDQE HIMEHLEGVI NKPEAEMSPQ ELQLHYFKMH DYDGNNLLDG LELSTAITHV HKEEGSEQAP LMSEDELINI IDGVLRDDDK NNDGYIDYAE FAKSLQ
蛋白標簽：

Tag?type?will?be?determined?during?the?manufacturing?process.

The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
產品提供形式：

Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
復溶：

We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
儲存條件：

Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
保質期：

The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
貨期：

Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
注意事項：

Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet ：

Please contact us to get it.

產品評價

靶點詳情

功能：

The MCFD2-LMAN1 complex forms a specific cargo receptor for the ER-to-Golgi transport of selected proteins. Plays a role in the secretion of coagulation factors.
基因功能參考文獻：
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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相關疾病：

Factor V and factor VIII combined deficiency 2 (F5F8D2)
亞細胞定位：

Endoplasmic reticulum-Golgi intermediate compartment. Endoplasmic reticulum. Golgi apparatus.
數據庫鏈接：

HGNC: 18451

OMIM: 607788

KEGG: hsa:90411

STRING: 9606.ENSP00000317271

UniGene: Hs.662152