KIR6.2 Polyclonal Antibody

Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. ATP-sensitive inward rectifier potassium channel 11 encoded by KCNJ11 is an integral membrane protein and inward-rectifier type potassium channel. ATP-sensitive inward rectifier potassium channel 11, 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.

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