rs750142585
This variant is located in the SLC1A1 gene.
▶ClinVar annotation
About SLC1A1
This gene encodes a member of the high-affinity glutamate transporters that play an essential role in transporting glutamate across plasma membranes. In brain, these transporters are crucial in terminating the postsynaptic action of the neurotransmitter glutamate, and in maintaining extracellular glutamate concentrations below neurotoxic levels. This transporter also transports aspartate, and mutations in this gene are thought to cause dicarboxylicamino aciduria, also known as glutamate-aspartate transport defect. [provided by RefSeq, Mar 2010]
View all SLC1A1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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