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kcnj11

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Official Full Name
potassium inwardly-rectifying channel, subfamily J, member 11
Background
Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded 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 and is found associated with the sulfonylurea receptor SUR. Mutations in this gene are a cause of familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated insulin secretion. Defects in this gene may also contribute to autosomal dominant non-insulin-dependent diabetes mellitus type II (NIDDM), transient neonatal diabetes mellitus type 3 (TNDM3), and permanent neonatal diabetes mellitus (PNDM). Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2009]
Synonyms
KCNJ11; potassium inwardly-rectifying channel, subfamily J, member 11; BIR; HHF2; PHHI; IKATP; TNDM3; KIR6.2; ATP-sensitive inward rectifier potassium channel 11; beta-cell inward rectifier subunit; inward rectifier K(+) channel Kir6.2; inwardly rectifying potassium channel KIR6.2; potassium channel inwardly rectifing subfamily J member 11; potassium channel, inwardly rectifying subfamily J member 11; MGC133230

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