The GLE1 gene codes for an evolutionarily conserved protein involved in the regulation of gene expression.  This protein is localized at the nuclear pore complexes suggesting that GLE1 may act at a terminal step in the export of mature mRNA to the cytoplasm.  It has also been shown to play an important role in both translation initiation and termination. 

The GLE1 gene has been implicated in two diseases: Lethal Congenital Contracture Syndrome 1 (LCCS1), characterized by arthrogryposis, degeneration of anterior horn neurons and extreme skeletal muscle atrophy, as well as Lethal Arthrogryposis with Anterior Horn Cell Disease (LAAHD), characterized by fetal akinesia, arthrogryposis, and motor neuron loss.  While LCCS1 results in prenatal death, LAAHD causes respiratory failure and ultimately fetal death. 

The GLE1 gene spans a length of about 37 kb with a coding region comprising 19 exons.  It encodes a protein that is 79 kDa in size and made of 698 amino acids.  At least two isoforms of the protein exist due to alternative splicing, one of which is localized to the nuclear pore complex, while the other is cytoplasmic.  The C-terminal domain has been shown to play an important role in interacting with other proteins in order to facilitate the role of Gle1 in both RNA export and translation.  On the other hand, the N-terminal coiled-coil domain plays an important role in Gle1 self-association

Homozygous mutations in the GLE1 gene result in lethal congenital contracture syndrome 1 while compound heterozygous mutations have been shown usually to result in lethal arthrogryposis with anterior horn cell disease.