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Article

Functional effects of KCNJ11 mutations causing neonatal diabetes: enhanced activation by MgATP.

Human molecular genetics - 15 Sept 2005

Proks Peter, Girard Christophe, Ashcroft Frances M

Abstract excerpt

Recent studies have shown that heterozygous mutations in KCNJ11, which encodes Kir6.2, the pore-forming subunit of the ATP-sensitive potassium (K(ATP)) channel, cause permanent neonatal diabetes either alone (R201C, R201H) or in association with developmental delay, muscle weakness and epilepsy (V59G,V59M). Functional analysis in the absence of Mg2+, to isolate the inhibitory effects of ATP on Kir6.2, showed that...

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Identifiers

PMID: 16087682
DOI: 10.1093/hmg/ddi305

Genes

KCNJ11

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Source receipt: pubmed, retrieved 7 Sept 2026.

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