Protein transport across the nucleus is a selective, multi-step process involving several cytoplasmic factors that mediate protein passage through the nuclear pore complex (NPC). Gle1, also known as GLE1L, is a 698 amino acid protein that localizes to both the nucleus and the cytoplasm and belongs to the Gle1 family. Expressed as two alternatively spliced isoforms, Gle1 associates with the NPC and is required for the transport of poly(A)-containing mRNAs from the nucleus to the cytoplasm. Defects in the gene encoding Gle1 are the cause of lethal congenital contracture syndrome type 1 (LCCS1) and lethal arthrogryposis with anterior horn cell disease (LAAHD), the former of which is characterized by early fetal hydrops and akinesia, micrognatia, pulmonary hypoplasia, pterygia and prenatal death, while the latter is associated with respiratory failure.
Synonyms: 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 1, LCCS, LCCS1, Nucleoporin GLE1.