Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol SLC1A3 contributors: mct - updated : 22-05-2014
HGNC name solute carrier family 1 (glial high affinity glutamate transporter), member 3
HGNC id 10941
ASSOCIATED DISORDERS
corresponding disease(s) EA6
related resource MITOP database
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --over  
in motor neuron disease
constitutional     --low  
may be an adaptive response to neuronal death or it may be a causative event contributing to neuronal death
constitutional     --low  
reduced SLC16A4 and SLC1A3 expression by astrocytes may lead to neuronal hyperexcitability and epileptogenesis in the temporal lobe by reducing the supply of metabolic intermediates and by allowing accumulation of extracellular glutamate
Susceptibility
Variant & Polymorphism
Candidate gene its expression is exceptionally rare in non-neoplastic choroid plexus and is a helpful diagnostic tool in choroid plexus tumors
Marker
Therapy target
ANIMAL & CELL MODELS