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Mouse Anti-MCFD2 (AA 27-146) Recombinant Antibody (CBFYM-1870) (CBMAB-M2041-FY)

This product is mouse antibody that recognizes MCFD2. The antibody CBFYM-1870 can be used for immunoassay techniques such as: IHC, WB.
See all MCFD2 antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
CBFYM-1870
Antibody Isotype
IgG2b
Application
IHC, WB

Basic Information

Immunogen
E. coli-derived recombinant human SDNSF/MCFD2 Glu27-Gln146
Specificity
Human
Antibody Isotype
IgG2b
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Liquid
Buffer
PBS, 5% trehalose
Concentration
0.5 mg/mL
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.
Epitope
AA 27-146

Target

Full Name
multiple coagulation factor deficiency 2
Introduction
This gene encodes a soluble luminal protein with two calmodulin-like EF-hand motifs at its C-terminus. This protein forms a complex with LMAN1 that facilitates the transport of coagulation factors V and VIII from the endoplasmic reticulum to the Golgi apparatus via an endoplasmic reticulum Golgi intermediate compartment. Mutations in this gene cause combined deficiency of FV and FVIII; 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.
Entrez Gene ID
90411
UniProt ID
Q8NI22
Alternative Names
Multiple Coagulation Factor Deficiency 2; Neural Stem Cell-Derived Neuronal Survival Protein; SDNSF; Multiple Coagulation Factor Deficiency Protein 2; LMAN1IP; F5F8D2; F5F8D
Function
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.
Biological Process
Protein transport Source: UniProtKB-KW
Vesicle-mediated transport Source: UniProtKB-KW
Cellular Location
Endoplasmic reticulum
Golgi apparatus
Other locations
Endoplasmic reticulum-Golgi intermediate compartment
Involvement in disease
Factor V and factor VIII combined deficiency 2 (F5F8D2):
A blood coagulation disorder characterized by bleeding symptoms similar to those in hemophilia or parahemophilia, that are caused by single deficiency of FV or FVIII, respectively. The most common symptoms are epistaxis, menorrhagia, and excessive bleeding during or after trauma. Plasma levels of coagulation factors V and VIII are in the range of 5 to 30% of normal.
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For research use only. Not intended for any clinical use.

Custom Antibody Labeling

We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

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