Overview

Description

  • Nature
    Recombinant
  • Source
    Escherichia coli
  • Amino Acid Sequence
    • Species
      Human
    • Sequence
      MASMTGGQQM GRGSHMEEPA ASFSQPGSMG LDKNTVHDQE HIMEHLEGVI NKPEAEMSPQ ELQLHYFKMH DYDGNNLLDG LELSTAITHV HKEEGSEQAP LMSEDELINI IDGVLRDDDK NNDGYIDYAE FAKSLQ

Associated products

Specifications

Our Abpromise guarantee covers the use of ab92930 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • Applications

    SDS-PAGE

  • Purity
    > 90 % SDS-PAGE.

  • Form
    Liquid
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped at 4°C. Store at +4°C short term (1-2 weeks). Upon delivery aliquot. Store at -20°C or -80°C. Avoid freeze / thaw cycle.

    Preservative: None
    Constituents: 10% Glycerol, 20mM Tris HCl, 100mM Sodium chloride, pH 7.5

General Info

  • Alternative names
    • 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
    see all
  • 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.
  • Involvement in disease
    Defects in MCFD2 are a cause of factor V and factor VIII combined deficiency type 2 (F5F8D2) [MIM:613625]; also known as multiple coagulation factor deficiency 2 (MCFD2). F5F8D2 is 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.
  • Sequence similarities
    Contains 2 EF-hand domains.
  • Domain
    Essentially unstructured in the absence of calcium ions. Requires calcium ions for folding.
  • Cellular localization
    Endoplasmic reticulum-Golgi intermediate compartment. Endoplasmic reticulum. Golgi apparatus.
  • Information by UniProt

Recombinant Human MCFD2 protein images

  • 15% SDS-PAGE analysis of 3µg ab92930

References for Recombinant Human MCFD2 protein (ab92930)

ab92930 has not yet been referenced specifically in any publications.

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