2024年12月25日 · SLC12A5 (Solute Carrier Family 12 Member 5) is a Protein Coding gene. Diseases associated with SLC12A5 include Developmental And Epileptic Encephalopathy 34 and Epilepsy, Idiopathic Generalized 14 .

Potassium-chloride transporter member 5 (aka: KCC2 and SLC12A5) is a neuron-specific chloride potassium symporter responsible for establishing the chloride ion gradient in neurons through the maintenance of low intracellular chloride concentrations. [5]

2025年2月8日 · SLC12A5 plays a pivotal oncogenic role in colorectal carcinogenesis; its overexpression is an independent prognostic factor of patients with CRC. the functional deficit of KCC2 may offer an explanation for the delayed onset of Rett symptoms. A KCC2 mutation causes epilepsy of infancy with migrating focal seizures.

2016年12月1日 · The SLC12A5 gene encodes the neuronal KCC2 channel that is the major extruder of intracellular chloride in mature neurons. In the presence of low intraneuronal chloride, the binding of GABA and glycine to their ionotropic receptors results in chloride influx with subsequent hyperpolarization contributing to neuronal inhibition.

该基因编码的蛋白质是一种完整的膜 K-Cl 协同转运蛋白，可以在净流出或流入途径中发挥作用，具体取决于钾和氯的化学浓度梯度。 编码的蛋白质可以作为同源多聚体，或作为与其他 K-Cl 协同转运蛋白的异源多聚体，以维持神经元中的氯稳态。 可变剪接导致编码不同异构体的两个转录变体。 [RefSeq 提供，2008 年 9 月] K-Cl cotransporters are proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential.

2023年1月6日 · SLC12A5 (Solute Carrier Family 12 Member 5) is a neuron specific potassium chloride cotransporter 2 (K + /Cl − cotransporter 2, KCC2) that is responsible for the transport of chloride ions from...

SLC12A5 is a prognostic marker in Glioblastoma multiforme, Kidney renal clear cell carcinoma, Liver hepatocellular carcinoma

2017年3月23日 · Solute carrier family 12 member 5 (SLC12A5), an integral membrane KCl cotransporter, which maintains chloride homeostasis in neurons, is aberrantly expressed and...

2023年10月10日 · Title: SLC12A5 as a novel potential biomarker of glioblastoma multiforme. SLC12A5 promotes hepatocellular carcinoma growth and ferroptosis resistance by inducing ER stress and cystine transport changes.

2019年2月14日 · SLC12A5 -related epilepsy of infancy with migrating focal seizures (SLC12A5 -EIMFS), reported to date in nine children, is characterized by onset of seizures before age six months and either developmental delay or developmental regression with seizure onset.