Multiple Coagulation Factor Deficiency 2 (MCFD2) ELISA Kits

MCFD2 encodes a soluble luminal protein with two calmodulin-like EF-hand motifs at its C-terminus. Additionally we are shipping Multiple Coagulation Factor Deficiency 2 Antibodies (56) and Multiple Coagulation Factor Deficiency 2 Proteins (9) and many more products for this protein.

list all ELISA KIts Gene Name GeneID UniProt
MCFD2 90411 Q8NI22
MCFD2 193813 Q8K5B2
MCFD2 246117 Q8K5B3
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Top Multiple Coagulation Factor Deficiency 2 ELISA Kits at antibodies-online.com

Showing 3 out of 12 products:

Catalog No. Reactivity Sensitivity Range Images Quantity Delivery Price Details
Human 13 pg/mL 78-5000 pg/mL   96 Tests 2 to 3 Days
$867.90
Details
Mouse
  96 Tests 2 to 3 Days
$867.90
Details
Rat < 13 pg/mL 31.2 pg/mL - 2000 pg/mL   96 Tests 11 to 18 Days
$618.29
Details

More ELISA Kits for Multiple Coagulation Factor Deficiency 2 Interaction Partners

Xenopus laevis Multiple Coagulation Factor Deficiency 2 (MCFD2) interaction partners

  1. Results indicate the biological roles of MCFD2 in both vertebrates and invertebrates.

Human Multiple Coagulation Factor Deficiency 2 (MCFD2) interaction partners

  1. that Multiple coagulation factor deficiency protein 2 promotes cancer metastasis by regulating lectin mannose binding 1 and level of galactoside-binding soluble 3 binding protein expression levels

  2. Combined deficiency of factors V and VIII by chance coinheritance of parahaemophilia and haemophilia A, but not by mutations of either LMAN1 or MCFD2

  3. 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.

  4. Studies indicate that the LMAN1-CRD contains distinct, separable binding sites for both its partner protein MCFD2 and the cargo proteins FV/FVIII.

  5. Results indicate the biological roles of MCFD2 in both vertebrates and invertebrates.

  6. Data indicate that together with its soluble coreceptor MCFD2, LMAN1 transports coagulation factors V (FV) and VIII (FVIII).

  7. 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]

  8. We present the identification of a novel MCFD2 gene missense mutation by direct sequencing.

  9. 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.

  10. 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.

  11. 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.

  12. inactivating mutations in MCFD2 cause combined deficiency of factor V and factor VIII with a phenotype indistinguishable from that caused by mutations in LMAN1

  13. ERGIC-53 and MCFD2 have important functions during cellular response to stress conditions

  14. LMAN1 and MCFD2 form a cargo receptor complex and the primary sorting signals residing in the B domain direct the binding of factor VIII

  15. Mutations in (LMAN1) and (MCFD2), have been found to be responsible for the dual deficiency of FV and FVIII.

  16. 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.

  17. 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

  18. 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.

  19. Binding of ERGIC-53 to sugar is enhanced by its interaction with MCFD2, and defects in this interaction in factor V and VIII deeficient patients may be the cause for reduced secretion of factors V and VIII.

  20. 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

Mouse (Murine) Multiple Coagulation Factor Deficiency 2 (MCFD2) interaction partners

  1. MCFD2-deficient mice generated by gene targeting also demonstrate reduced plasma FV and FVIII, with levels lower than those in LMAN1-deficient mice, similar to previous observations in LMAN1- and MCDF2-deficient humans.

  2. These results indicate that increased levels of cargo receptor proteins might have a function either in the quality control of protein folding in the endoplasmic reticulum or in the homeostasis of the intermediate compartment and Golgi complex.

Multiple Coagulation Factor Deficiency 2 (MCFD2) Antigen Profile

Antigen Summary

This gene encodes a soluble luminal protein with two calmodulin-like EF-hand motifs at its C-terminus. This protein forms a complex with LAMN1 (lectin mannose binding protein 1\; also known as ERGIC-53) that facilitates the transport of coagulation factors V (FV) and VIII (FVIII) from the endoplasmic reticulum to the Golgi apparatus via an endoplasmic reticulum Golgi intermediate compartment (ERGIC). Mutations in this gene cause combined deficiency of FV and FVIII (F5F8D)\; a rare autosomal recessive bleeding disorder characterized by mild to moderate bleeding and coordinate reduction in plasma FV and FVIII levels. This protein has also been shown to maintain stem cell potential in adult central nervous system and is a marker for testicular germ cell tumors. The 3' UTR of this gene contains a transposon-like human repeat element named 'THE 1'. A processed RNA pseudogene of this gene is on chromosome 6p22.1. Alternative splicing results in multiple transcript variants encoding distinct isoforms.

Gene names and symbols associated with MCFD2

  • multiple coagulation factor deficiency 2 (MCFD2) antibody
  • multiple coagulation factor deficiency 2 (mcfd2) antibody
  • multiple coagulation factor deficiency 2 L homeolog (mcfd2.L) antibody
  • multiple coagulation factor deficiency 2 (Mcfd2) antibody
  • 1810021C21Rik antibody
  • DKFZp469B098 antibody
  • F5f8d antibody
  • F5F8D2 antibody
  • hm:zeh1186 antibody
  • Lman1ip antibody
  • MCFD2 antibody
  • Sdnsf antibody
  • wu:fc23b10 antibody
  • wu:fd50d08 antibody
  • zgc:103713 antibody
  • zgc:109915 antibody

Protein level used designations for MCFD2

multiple coagulation factor deficiency 2 , multiple coagulation factor deficiency protein 2 , Multiple coagulation factor deficiency protein 2 homolog , neural stem cell derived neuronal survival protein , neural stem cell-derived neuronal survival protein , multiple coagulation factor deficiency protein 2 homolog , stem cell derived neuronal survival protein

GENE ID SPECIES
421413 Gallus gallus
449676 Danio rerio
459210 Pan troglodytes
474582 Canis lupus familiaris
496472 Xenopus (Silurana) tropicalis
616647 Bos taurus
100137636 Xenopus laevis
100174341 Pongo abelii
100353154 Oryctolagus cuniculus
90411 Homo sapiens
193813 Mus musculus
246117 Rattus norvegicus
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