Symbol
| SLC1A3
| contributors: mct - updated : 22-05-2014
|
HGNC name
| solute carrier family 1 (glial high affinity glutamate transporter), member 3
|
HGNC id
| 10941
|
corresponding disease(s)
|
EA6
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein 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 | |
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
| | |