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Article

Loss-of-function KCa2.2 mutations abolish channel activity.

American journal of physiology. Cell physiology - 1 Mar 2023

Nam Young-Woo, Rahman Mohammad Asikur, Yang Grace, Orfali Razan, Cui Meng, Zhang Miao

Abstract excerpt

Small-conductance Ca2+-activated potassium channels subtype 2 (KCa2.2, also called SK2) are operated exclusively by a Ca2+-calmodulin gating mechanism. Heterozygous genetic mutations of KCa2.2 channels have been associated with autosomal dominant neurodevelopmental disorders including cerebellar ataxia and tremor in humans and rodents. Taking advantage of these pathogenic mutations, we performed...

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Identifiers

PMID: 36717104
DOI: 10.1152/ajpcell.00584.2022
PMCID: PMC10069973

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