GENE OVERVIEW OF KEY PUBLISHED STUDIES FOR ALS


GeneSLC1A2
Other namesEAAT2; GLT-1
Gene namesolute carrier family 1 (glial high affinity glutamate transporter), member 2
Gene inheritanceSALS genes
Discovery methodGWAS
CategoryEXOTOXICITY AND GLUTAMATE TRANSPORT
Chromosome11p13-p12
GRCh37 (hg19)Chr11:35272752-35441610 ( -)
GRCh38 (hg38)Chr11:35251205-35420063(-)
BackgroundExcitotoxicity hypothesized to result in motor neuron degeneration
ResultNo association with human ALS demonstrated/ replicated
Mutations0
Patients0

BIOINFORMATICS

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ANIMAL MODELS

                               

KEY PUBLICATIONS (9)

First_AuthorYearTitlePaper
Aoki1997Mutations in the glutamate transporter EAAT2 gene do not cause abnormal EAAT2 transcripts in amyotrophic lateral sclerosisFull_Paper
Bos2006Increased glutamine synthetase but normal EAAT2 expression in platelets of ALS patientsFull_Paper
Flowers2001Intron 7 retention and exon 9 skipping EAAT2 mRNA variants are not associated with amyotrophic lateral sclerosisFull_Paper
Gibb2007A caspase-3-cleaved fragment of the glial glutamate transporter EAAT2 is sumoylated and targeted to promyelocytic leukemia nuclear bodies in mutant SOD1-linked amyotrophic lateral sclerosisFull_Paper
Honig2000Glutamate transporter EAAT2 splice variants occur not only in ALS, but also in AD and controlsFull_Paper
Jackson1999Polymorphisms in the glutamate transporter gene EAAT2 in European ALS patientsFull_Paper
Lin1998Aberrant RNA processing in a neurodegenerative disease: the cause for absent EAAT2, a glutamate transporter, in amyotrophic lateral sclerosisFull_Paper
Meyer1998The EAAT2 (GLT-1) gene in motor neuron disease: absence of mutations in amyotrophic lateral sclerosis and a point mutation in patients with hereditary spastic paraplegiaFull_Paper
Meyer1999The RNA of the glutamate transporter EAAT2 is variably spliced in amyotrophic lateral sclerosis and normal individualsFull_Paper