GLE1 Antibody – Rabbit Polyclonal

This gene encodes a predicted 75-kDa polypeptide with high sequence and structure homology to yeast Gle1p, which is nuclear protein with a leucine-rich nuclear export sequence essential for poly(A)+RNA export. Inhibition of human GLE1L by microinjection of antibodies against GLE1L in HeLa cells resulted in inhibition of poly(A)+RNA export. Immunoflourescence studies show that GLE1L is localized at the nuclear pore complexes. This localization suggests that GLE1L may act at a terminal step in the export of mature RNA messages to the cytoplasm. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

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: Nuclear export; Karyopherin

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

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