Biallelic loss-of-function variants in KCNJ16 presenting with hypokalemic metabolic acidosis

KCNJ16 encodes K 5.1 and acts in combination with K 4.1, encoded by KCNJ10, to form an inwardly rectifying K channel expressed at the basolateral membrane of epithelial cells in the distal nephron. This K 4.1/K 5.1 channel is critical for controlling basolateral membrane potential and K recycling, t...

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Veröffentlicht in:	European journal of human genetics : EJHG 2021-10, Vol.29 (10), p.1566-1569
Hauptverfasser:	Webb, Bryn D, Hotchkiss, Hilary, Prasun, Pankaj, Gelb, Bruce D, Satlin, Lisa
Format:	Artikel
Sprache:	eng
Schlagworte:	Acidosis Acidosis - genetics Acidosis - pathology Alleles Brief Communication Child, Preschool Epithelial cells Female Humans Hypokalemia - genetics Hypokalemia - pathology Loss of Function Mutation Membrane potential Metabolic acidosis Metabolism Na+/K+-exchanging ATPase Potassium channels (inwardly-rectifying) Potassium Channels, Inwardly Rectifying - genetics Renal function
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