(Potassium Inwardly-Rectifying Channel, Subfamily J, Member 10 (KCNJ10))
This gene encodes a member of the inward rectifier-type potassium channel family, characterized by having a greater tendency to allow potassium to flow into, rather than out of, a cell. The encoded protein may form a heterodimer with another potassium channel protein and may be responsible for the potassium buffering action of glial cells in the brain. Mutations in this gene have been associated with seizure susceptibility of common idiopathic generalized epilepsy syndromes. [provided by RefSeq, Jul 2008].
Nadella, Chellappa, Subramaniam, More, Shetty, Prakash, Ratna, Vandana, Purushottam, Saini, Viswanath, Bindu, Nagappa, Mehta, Jain, Kannan: "Identification and functional characterization of two novel mutations in KCNJ10 and PI4KB in SeSAME syndrome without electrolyte imbalance." in: Human genomics, Vol. 13, Issue 1, pp. 53, (2019) (PubMed).
Locher, de Groot, van Iperen, Huisman, Frijns, Chuva de Sousa Lopes: "Development of the stria vascularis and potassium regulation in the human fetal cochlea: Insights into hereditary sensorineural hearing loss." in: Developmental neurobiology, Vol. 75, Issue 11, pp. 1219-40, (2015) (PubMed).
Singh, Wangemann: "Free radical stress-mediated loss of Kcnj10 protein expression in stria vascularis contributes to deafness in Pendred syndrome mouse model." in: American journal of physiology. Renal physiology, Vol. 294, Issue 1, pp. F139-48, (2008) (PubMed).