Recombinant Human GLE1 protein (ab158531)

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).

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.