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Nov 13, 2025 · Complete information for KCNJ10 gene (Protein Coding), Potassium Inwardly Rectifying Channel Subfamily J Member 10, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCar...
Humans with mutations in the KCNJ10 gene that cause loss of function in related K + channels can display Epilepsy, Ataxia, Sensorineural deafness and Tubulopathy, the EAST syndrome (Gitelman syndrome phenotype) reflec...
Impact of KCNJ10 mutations on the electroretinogram in four unrelated patients with EAST syndrome. Mutations in the K+ channel gene KCNJ10 (Kir4.1) cause the autosomal recessive EAST syndrome which is characterized by...
The KCNJ10 gene encodes an inwardly rectifying potassium channel that is expressed in renal epithelial cells, inner ear cells, and glial cells in the central nervous system (Scholl et al., 2009) Potassium channels are...
This gene has 2 transcripts (splice variants), 263 orthologues, 15 paralogues and is associated with 5 phenotypes.
钾内向整流通道亚家族 J 成员 10： 该基因编码内向整流型钾通道家族的一个成员，其特征是更倾向于让钾流入而不是流出细胞。编码的蛋白质可能与另一种钾通道蛋白形成异二聚体，并可能负责大脑中神经胶质细胞的钾缓冲作用。该基因的突变与常见特发性全身性癫痫综合征的癫痫发作易感性有关 ...
Dec 24, 2024 · 此外，KCNJ10的功能异常还可能导致肾功能障碍，影响钾离子的平衡。 研究与未来展望 随着对KCNJ10基因研究的深入，科学家们希望能够开发出针对相关疾病的治疗方法。 例如，通过调节KCNJ10通道的功能，可能有助于治疗某些形式的神经退行性疾病或肾脏疾病。
KCNJ10 is defined as a gene that encodes ATP-sensitive inward rectifying potassium channels, which have been associated with genetic generalized epilepsies and conditions such as epilepsy, ataxia, sensorineural deafne...
Kcnj10基因位于细胞外区域，与人类KCNJ10正同源。页面提供物种序列对比、转录本、蛋白互作、表达量及疾病模型研究数据，用于研究糖尿病性视网膜病变和肌萎缩侧索硬化症。
KCNJ10 protein expression summary - The Human Protein Atlas KCNJ10 (Kir1.2, Kir4.1) protein expression summary.
