Gene: LOC101929270

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: GLE1

Alternate names for this Gene: CAAHC|CAAHD|GLE1L|LCCS|LCCS1|hGLE1

Gene Summary: 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.

Gene is located in Chromosome: 9

Location in Chromosome : 9q34.11

Description of this Gene: GLE1 RNA export mediator

Type of Gene: protein-coding

rs121434407 in LOC101929270;GLE1 gene and Dysmorphic features PMID 23421748 2013 Hypoplasia of the spinal cord in a case of foetal akinesia/arthrogryposis sequences.

PMID 18204449 2008 Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.

PMID 25343993 2015 Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis.

PMID 27684565 2017 Expansion of the GLE1-associated arthrogryposis multiplex congenita clinical spectrum.

PMID 24961629 2015 An exome sequencing strategy to diagnose lethal autosomal recessive disorders.

PMID 28884921 2017 Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1.

PMID 3993672 1985 A lethal autosomal recessive syndrome of multiple congenital contractures.

rs121434407 in LOC101929270;GLE1 gene and LETHAL CONGENITAL CONTRACTURE SYNDROME 1 PMID 18204449 2008 Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.

rs121434409 in LOC101929270;GLE1 gene and Lethal Arthrogryposis With Anterior Horn Cell Disease PMID 18204449 2008 Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.

rs121434407 in LOC101929270;GLE1 gene and Multiple congenital anomalies PMID 3993672 1985 A lethal autosomal recessive syndrome of multiple congenital contractures.

PMID 28884921 2017 Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1.

PMID 18204449 2008 Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.

PMID 24961629 2015 An exome sequencing strategy to diagnose lethal autosomal recessive disorders.

PMID 25343993 2015 Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis.

PMID 23421748 2013 Hypoplasia of the spinal cord in a case of foetal akinesia/arthrogryposis sequences.

PMID 27684565 2017 Expansion of the GLE1-associated arthrogryposis multiplex congenita clinical spectrum.

rs121434407 in LOC101929270;GLE1 gene and Muscle hypotonia PMID 18204449 2008 Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.

PMID 25343993 2015 Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis.

PMID 27684565 2017 Expansion of the GLE1-associated arthrogryposis multiplex congenita clinical spectrum.

PMID 3993672 1985 A lethal autosomal recessive syndrome of multiple congenital contractures.

PMID 23421748 2013 Hypoplasia of the spinal cord in a case of foetal akinesia/arthrogryposis sequences.

PMID 28884921 2017 Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1.

PMID 24961629 2015 An exome sequencing strategy to diagnose lethal autosomal recessive disorders.