6m23
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Structural highlights
Disease[S12A5_HUMAN] Malignant migrating focal seizures of infancy. The disease is caused by variants affecting the gene represented in this entry. Disease susceptibility is associated with variants affecting the gene represented in this entry. Function[S12A5_HUMAN] Mediates electroneutral potassium-chloride cotransport in mature neurons and is required for neuronal Cl(-) homeostasis. As major extruder of intracellular chloride, it establishes the low neuronal Cl(-) levels required for chloride influx after binding of GABA-A and glycine to their receptors, with subsequent hyperpolarization and neuronal inhibition (By similarity). Involved in the regulation of dendritic spine formation and maturation (PubMed:24668262).[UniProtKB:Q63633][1] References
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This page was last modified 10:14, 19 May 2021.