GLE1L
Encyclopedia
Nucleoporin GLE1 is a protein
that in humans is encoded by the GLE1 gene
on chromosome 9
.
, one of 40 Finnish heritage disease
s, to a defined region of 9q34, where the GLE1 gene is located. Mutations in GLEI have been identified in families with foetal motoneuron disease.
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
that in humans is encoded by the GLE1 gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
on chromosome 9
Chromosome 9 (human)
125px|rightChromosome 9 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome, as they normally do with all chromosomes...
.
Mutation & Diseases
A genome-wide screening and linkage analysis assigned the disease locus of lethal congenital contracture syndromeLethal congenital contracture syndrome
Lethal congenital contracture syndrome 1 , also called Multiple contracture syndrome, Finnish type, is an autosomal recessive genetic disorder characterized by total immobility of a fetus, detectable at around the 13th week of pregnancy. LCCS1 invariably leads to prenatal death before the 32nd...
, one of 40 Finnish heritage disease
Finnish heritage disease
A Finnish heritage disease is a genetic disease or disorder that is part of the Finnish disease heritage. Finnish heritage diseases are significantly more common in people whose ancestors were ethnic Finns, natives of Finland and Sweden. About 40 rare diseases are regarded as Finnish heritage...
s, to a defined region of 9q34, where the GLE1 gene is located. Mutations in GLEI have been identified in families with foetal motoneuron disease.