This gene encodes a member of the inward rectifier-type potassium channel family,Kir4.1, characterized by having a greater tendency to allow potassium to flow into, rather than out of, a cell.Kir4.1, 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.[8]
Rett syndrome is a neurological disorder characterized by a mutation in the MeCP2 gene. This mutation results in less MeCP2. KCNJ10 expression is upregulated by the transcription factor MeCP2.[11] MeCP2 deficiency leads to less Kir4.1 channels present on astrocytes in the brain. Since there are fewer channels allowing potassium into the cells, extracellular potassium levels are higher. Higher extracellular potassium leaves neurons more easily excitable which could contribute to the epilepsy observed in many Rett Syndrome patients.[12]
^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^Tada Y, Horio Y, Takumi T, Terayama M, Tsuji L, Copeland NG, et al. (November 1997). "Assignment of the glial inwardly rectifying potassium channel KAB-2/Kir4.1 (Kcnj10) gene to the distal region of mouse chromosome 1".Genomics.45 (3):629–30.doi:10.1006/geno.1997.4957.PMID9367690.
^Kubo Y, Adelman JP, Clapham DE, Jan LY, Karschin A, Kurachi Y, et al. (December 2005). "International Union of Pharmacology. LIV. Nomenclature and molecular relationships of inwardly rectifying potassium channels".Pharmacological Reviews.57 (4):509–26.doi:10.1124/pr.57.4.11.PMID16382105.S2CID11588492.
Schoots O, Wilson JM, Ethier N, Bigras E, Hebert TE, Van Tol HH (December 1999). "Co-expression of human Kir3 subunits can yield channels with different functional properties".Cellular Signalling.11 (12):871–83.doi:10.1016/S0898-6568(99)00059-5.PMID10659995.
Farook VS, Hanson RL, Wolford JK, Bogardus C, Prochazka M (November 2002). "Molecular analysis of KCNJ10 on 1q as a candidate gene for Type 2 diabetes in Pima Indians".Diabetes.51 (11):3342–6.doi:10.2337/diabetes.51.11.3342.PMID12401729.S2CID44659955.
Konstas AA, Korbmacher C, Tucker SJ (April 2003). "Identification of domains that control the heteromeric assembly of Kir5.1/Kir4.0 potassium channels".American Journal of Physiology. Cell Physiology.284 (4): C910–7.doi:10.1152/ajpcell.00479.2002.PMID12456399.S2CID2525019.
Lenzen KP, Heils A, Lorenz S, Hempelmann A, Höfels S, Lohoff FW, et al. (February 2005). "Supportive evidence for an allelic association of the human KCNJ10 potassium channel gene with idiopathic generalized epilepsy".Epilepsy Research.63 (2–3):113–8.doi:10.1016/j.eplepsyres.2005.01.002.PMID15725393.S2CID23643776.
Huang C, Sindic A, Hill CE, Hujer KM, Chan KW, Sassen M, et al. (March 2007). "Interaction of the Ca2+-sensing receptor with the inwardly rectifying potassium channels Kir4.1 and Kir4.2 results in inhibition of channel function".American Journal of Physiology. Renal Physiology.292 (3): F1073–81.doi:10.1152/ajprenal.00269.2006.PMID17122384.
