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FLASH GENE

Symbol

SLC1A2

contributors: mct - updated : 13-09-2016

HGNC name	solute carrier family 1 (glial high affinity glutamate transporter), member 2
HGNC id	10940

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

EIEE41

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   in amyotrophic lateral sclerosis, motor cortex and spinal cord constitutional     --low   may be an adaptive response to neuronal death or it may be a causative event contributing to neuronal death constitutional       loss of function implicated in acute and chronic neurological disorders, including stroke/ischemia, temporal lobe epilepsy, amyotrophic lateral sclerosis, Alzheimer disease, human immunodeficiency virus 1-associated dementia, and growth of malignant gliomas

Susceptibility

to idiopathic epilepsy (generalized or absence) to autism spectrum disorder to epileptic encephalopathies (EEs) to Parkinson disease (PD)

Variant & Polymorphism other	a variant acting as a putative modifier for the spastic paraplegia phenotype
	SLC1A2 rs3794087 may decrease the risk for PD
	recurrence of the SLC1A2 p.Gly82Arg variant might be accounted for by a homopolymer stretch of guanines in epileptic encephalopathies (EEs)

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed miscelleaneous pain   enhanced glutamate uptake provides protective effects against colonic distension-induced nociception and represents an exciting new mechanistic approach leading to better therapeutic options to visceral pain disorders neurology neurodegenerative   mechanism for ceftriaxone modulation of glutamate transport and for its potential effects on ameliorating specific neurodegenerative diseases through modulation of extracellular glutamate

ANIMAL & CELL MODELS

Slc1a2 null mice exhibit lethal spontaneous epileptic seizures, and very few animals survive beyond 13 weeks