From NCBI Gene: Schizophrenia 18From UniProt: Dicarboxylic aminoaciduria (DCBXA): An autosomal recessive disorder characterized by abnormal excretion of urinary glutamate and aspartate, resulting from the incomplete reabsorption of anionic amino acids from the glomerular filtrate in the kidney. It can be associated with mental retardation. [MIM:222730] Schizophrenia 18 (SCZD18): A complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder. [MIM:615232]

     From NCBI Gene: 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] From UniProt: Transports L-glutamate, L- and D-aspartate and L-cystein (PubMed:21123949). Essential for terminating the postsynaptic action of glutamate by rapidly removing released glutamate from the synaptic cleft. Acts as a symport by cotransporting sodium . Negatively regulated by ARL6IP5.

The following transcription factors affect gene expression:

• NF-kappaB
• NF-kappaB1

Tissue specificity:

Expressed in all tissues tested including liver, muscle, testis, ovary, retinoblastoma cell line, neurons and brain (in which there was dense expression in substantia nigra, red nucleus, hippocampus and in cerebral cortical layers).

Molecular Function:

• L-Glutamate Transmembrane Transporter Activity
• High-Affinity Glutamate Transmembrane Transporter Activity
• Amino Acid Transmembrane Transporter Activity
• Glutamate:Sodium Symporter Activity
• Glutamate Binding
• Cysteine Transmembrane Transporter Activity

Biological Processes:

• Ion Transport
• Chemical Synaptic Transmission
• Positive Regulation Of Heart Rate
• Glutamate Secretion
• Cysteine Transport
• Protein Homooligomerization
• L-Glutamate Import
• D-Aspartate Import
• L-Glutamate Transmembrane Transport

Drug Bank:

• L-Aspartic Acid
• Pregabalin