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.