Overview

Description

  • Nature
    Recombinant
  • Source
    Wheat germ
  • Amino Acid Sequence
    • Species
      Human
    • Sequence
      MDTDLYDEFGNYIGPELDSDEDDDELGRETKDLDEMDDDDDDDDVGDHDD DHPGMEVVLHEDKKYYPTAEEVYGPEVETIVQEEDTQPLTEPIIKPVKTK KFTLMEQTLPVTVYEMDFLADLMDNSELIRNVTLCGHLHHGKTCFVDCLI EQTHPEIRKRYDQDLCYTDILFTEQERGVGIKSTPVTVVLPDTKGKSYLF NIMDTPGHVNFSDEVTAGLRISDGVVLFIDAAEGVMLNTERLIKHAVQER LAVTVCINKIDRLILELKLPPTDAYYKLRHIVDEVNGLISMYSTDENLIL SPLLGNVCFSSSQYSICFTLVSFAKIYADTFGDINYQEFAKRLWGDIYFN PKTRKFTKKAPTSSSQRSFVEFILEPLYKILAQVVGDVDTSLPRTLDELG IHLTKEELKLNIRPLLRLVCKKFFGEFTGFVDMCVQHIPSPKVGAKPKIE HTYTGGVDSDLGEAMSDCDPDGPLMCHTTKMYSTDDGVQFHAFGRVLSGT IHAGQPVKVLGENYTLEDEEDSQICTVGRLWISVARYHIEVNRVPAGNWV LIEGVDQPIVKTATITEPRGNEEAQIFRPLKFNTTSVIKIAVEPVNPSEL PKMLDGLRKVNKSYPSLTTKVEESGEHVILGTGELYLDCVMHDLRKMYSE IDIKVADPVVTFCETVVETSSLKCFAETPNKKNKITMIAEPLEKGLAEDI ENEVVQITWNRKKLGEFFQTKYDWDLLAARSIWAFGPDATGPNILVDDTL PSEVDKALLGSVKDSIVQGFQWGTREGPLCDELIRNVKFKILDAVVAQEP LHRGGGQIIPTARRVVYSAFLMATPRLMEPYYFVEVQAPADCVSAVYTVL ARRRGHVTQDAPIPGSPLYTIKAFIPAIDSFGFETDLRTHTQGQAFSLSV FHHWQIVPGDPLDKSIVIRPLEPQPAPHLAREFMIKTRRRKGLSEDVSIS KFFDDPMLLELAKQDVVLNYPM
    • Amino acids
      1 to 972
    • Tags
      proprietary tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab160443 in the following tested applications.

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

  • Applications

    Western blot

    ELISA

  • Form
    Liquid
  • Additional notes
    Protein concentration is above or equal to 0.05 mg/ml.
  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.

    pH: 8.00
    Constituents: 0.31% Glutathione, 0.79% Tris HCl

General Info

  • Alternative names
    • 116 kDa
    • 116 kDa U5 small nuclear ribonucleoprotein component
    • EFTUD2
    • Elongation factor Tu GTP binding domain containing 2
    • Elongation factor Tu GTP-binding domain-containing protein 2
    • hSNU114
    • MFDGA
    • MFDM
    • SNRNP116
    • Snrp116
    • Snu114
    • SNU114 homolog
    • U5 116KD
    • U5 small nuclear ribonucleoprotein component
    • U5 snRNP specific protein, 116 kD
    • U5 snRNP specific protein, 116 kDa
    • U5 snRNP-specific protein
    • U5-116 kDa
    • U5-116KD
    • U5S1_HUMAN
    see all
  • Function
    Component of the U5 snRNP complex required for pre-mRNA splicing. Binds GTP.
  • Involvement in disease
    Defects in EFTUD2 are the cause of mandibulofacial dysostosis with microcephaly (MFDM) [MIM:610536]. A rare syndrome characterized by progressive microcephaly, midface and malar hypoplasia, micrognathia, microtia, dysplastic ears, preauricular skin tags, significant developmental delay, and speech delay. Many patients have major sequelae, including choanal atresia that results in respiratory difficulties, conductive hearing loss, and cleft palate.
  • Sequence similarities
    Belongs to the GTP-binding elongation factor family. EF-G/EF-2 subfamily.
  • Post-translational
    modifications
    Phosphorylated upon DNA damage, probably by ATM or ATR.
  • Cellular localization
    Nucleus.
  • Information by UniProt

Images

  • ab160443 on a 12.5% SDS-PAGE stained with Coomassie Blue.

References

ab160443 has not yet been referenced specifically in any publications.

Customer reviews and Q&As

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Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"

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