Overview

Description

  • NatureRecombinant
  • SourceWheat germ
  • Amino Acid Sequence
    • AccessionQ53GS7
    • SpeciesHuman
    • SequenceRMKGTEGLRLWQEEQERKVQALSEMASEQLKRFDEWKELKQHKEFQDLRE VMEKSSREALGHQEKLKAEHRHRAKILNLKLREAEQQRVKQAEQERLRKE E
    • Molecular weight37 kDa including tags
    • Amino acids140 to 240

Specifications

Our Abpromise guarantee covers the use of ab114682 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

    SDS-PAGE

    ELISA

  • FormLiquid
  • Additional notesProtein concentration is above or equal to 0.05 mg/ml.
    Best used within three months from the date of receipt.
  • 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: 0.3% Glutathione, 0.79% Tris HCl

General Info

  • Alternative names
    • GLE 1
    • GLE1
    • GLE1 like protein
    • GLE1 like RNA export mediator
    • GLE1 RNA export mediator homolog
    • GLE1 RNA export mediator like (yeast)
    • GLE1-like protein
    • GLE1_HUMAN
    • GLE1L
    • hGLE1
    • LCCS
    • LCCS 1
    • LCCS1
    • Nucleoporin GLE1
    see all
  • FunctionRequired for the export of mRNAs containing poly(A) tails from the nucleus into the cytoplasm. May be involved in the terminal step of the mRNA transport through the nuclear pore complex (NPC).
  • Involvement in diseaseDefects in GLE1 are the cause of lethal congenital contracture syndrome type 1 (LCCS1) [MIM:253310]; also known as multiple contracture syndrome type Finnish. LCCS is an autosomal recessive disorder characterized by early fetal hydrops and akinesia, micrognatia, pulmonary hypoplasia, pterygia, multiple joint contractures, specific neuropathology with degeneration of anterior horn neurons and extreme skeletal muscle atrophy. LCCS1 leads to prenatal death.
    Defects in GLE1 are the cause of lethal arthrogryposis with anterior horn cell disease (LAAHD) [MIM:611890]. LAAHD is characterized by fetal akinesia, arthrogryposis and motor neuron loss. LAADH fetus often survive delivery, but die early as a result of respiratory failure. Neuropathological findings resemble those of LCCS1, but are less severe.
  • Sequence similaritiesBelongs to the GLE1 family.
  • Cellular localizationNucleus. Cytoplasm. Shuttles between the nucleus and the cytoplasm. Shuttling is essential for its mRNA export function and Cytoplasm. Nucleus > nuclear pore complex. Shuttles between the nucleus and the cytoplasm. In the nucleus, isoform 1 localizes to the nuclear pore complex and nuclear envelope. Shuttling is essential for its mRNA export function.
  • Information by UniProt

Recombinant Human GLE1 protein images

  • ab114682 analysed on a 12.5% SDS-PAGE gel stained with Coomassie Blue.

References for Recombinant Human GLE1 protein (ab114682)

ab114682 has not yet been referenced specifically in any publications.

Product Wall

There are currently no Abreviews or Questions for ab114682.
Please use the links above to contact us or submit feedback about this product.

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