KCNJ11

KCNJ11 (Potassium Inwardly-Rectifying Channel, Subfamily J, Member 11) is a protein that in humans is encoded by the KCNJ11 gene. It is a member of the G protein-coupled inwardly-rectifying potassium channel (GIRK) family. This protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins.

Function[edit | edit source]

KCNJ11 forms the potassium channel Kir6.2 that is a subunit of the ATP-sensitive potassium channel. This protein is an important part of the beta cells in the pancreas and is involved in the regulation of insulin secretion. Mutations in this gene have been associated with neonatal diabetes mellitus, type II diabetes, and hyperinsulinemic hypoglycemia of infancy (HHI).

Clinical significance[edit | edit source]

Mutations in the KCNJ11 gene can cause Permanent neonatal diabetes mellitus (PNDM) and Transient neonatal diabetes mellitus (TNDM). These are forms of diabetes that occur in the first 6 months of life. It is also associated with Developmental delay, epilepsy, and neonatal diabetes (DEND) syndrome.

References[edit | edit source]

External links[edit | edit source]

KCNJ11 at the US National Library of Medicine Medical Subject Headings (MeSH)

KCNJ11 Resources
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