The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Protein concentration is above or equal to 0.05 mg/ml.
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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
GLE1 like protein
GLE1 like RNA export mediator
GLE1 RNA export mediator homolog
GLE1 RNA export mediator like (yeast)
Required 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 disease
Defects 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.
Belongs to the GLE1 family.
Nucleus. 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.