2025年3月30日 · SLC1A2 (Solute Carrier Family 1 Member 2) is a Protein Coding gene. Diseases associated with SLC1A2 include Developmental And Epileptic Encephalopathy 41 and Non-Specific Early-Onset Epileptic Encephalopathy. Among its related pathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Transmission across Chemical …

Excitatory amino acid transporter 2 (EAAT2) also known as solute carrier family 1 member 2 (SLC1A2) and glutamate transporter 1 (GLT-1) is a protein that in humans is encoded by the SLC1A2 gene. [5] [6] Alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [6]

The observed associations between functional effects and clinical phenotypes produced by these variants offer valuable insights for future predictions of progression and severity of SLC1A2-associated neurodevelopmental disorders. Furthermore, these associations between variant-induced changes in EAAT2 function and phenotypic traits could assist in tailoring personalized …

SLC1A2 variant is associated with elevated anterior cingulate cortex glutamate and lifetime history of rapid cycling in mood disorders. The Na(+)/Ca(2+) exchanger (NCX) plays a dominant role in this Ca(2+) mobilization and its blockade suppresses the …

SLC1A2 is a trimeric transporter essential for clearing glutamate from neuronal synapses. Recurrent de novo SLC1A2 missense variants cause a severe, early onset developmental and epileptic encephalopathy via an unclear mechanism.

2022年12月21日 · Astrocytic glutamate transporter GLT-1 is responsible for preventing excitotoxicity via clearing extracellular accumulated glutamate. Previously, three variants (G82R, L85P, and P289R) in SLC1A2...

2025年2月8日 · Enables cysteine transmembrane transporter activity; high-affinity L-glutamate transmembrane transporter activity; and monoatomic anion transmembrane transporter activity. Involved in several processes, including L-glutamate import across plasma membrane; cellular response to cocaine; and glutathione biosynthetic process.