GLE1 Antibody – Mouse Monoclonal

GLE1: 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); 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). 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. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Karyopherin; Nuclear export

Chromosomal Location of Human Ortholog: 9q34.11

Cellular Component: extracellular space; membrane; cytoplasm; plasma membrane; nuclear pore

Molecular Function: identical protein binding; protein binding

Biological Process: poly(A)+ mRNA export from nucleus; mRNA export from nucleus; protein transport

Disease: Lethal Arthrogryposis With Anterior Horn Cell Disease; Lethal Congenital Contracture Syndrome 1