Overview

Description

  • NatureRecombinant
  • SourceEscherichia coli
  • Amino Acid Sequence
    • AccessionQ8NI22
    • SpeciesHuman
    • SequenceMASMTGGQQM GRGSHMEEPA ASFSQPGSMG LDKNTVHDQE HIMEHLEGVI NKPEAEMSPQ ELQLHYFKMH DYDGNNLLDG LELSTAITHV HKEEGSEQAP LMSEDELINI IDGVLRDDDK NNDGYIDYAE FAKSLQ
    • Molecular weight21 kDa including tags
    • Amino acids27 to 146
    • TagsT7 tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab117695 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.
    ab117695 is purified by proprietary chromatographic techniques.
  • FormLiquid
  • Additional notesIt is recommended to add a carrier protein (0.1% HSA or BSA).
  • 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 long term. Avoid freeze / thaw cycle.

    pH: 7.50
    Constituents: 0.32% Tris HCl, 0.58% Sodium chloride, 10% Glycerol

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
  • FunctionThe 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 diseaseDefects 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 similaritiesContains 2 EF-hand domains.
  • DomainEssentially unstructured in the absence of calcium ions. Requires calcium ions for folding.
  • Cellular localizationEndoplasmic reticulum-Golgi intermediate compartment. Endoplasmic reticulum. Golgi apparatus.
  • Information by UniProt

References for Recombinant Human MCFD2 protein (ab117695)

ab117695 has not yet been referenced specifically in any publications.

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