KCNJ11 Antibody

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.

KCNJ11, potassium inwardly-rectifying channel, subfamily J, member 11, BIR, HHF2, IKATP, KIR6.2, MGC133230, PHHI, TNDM3, ATP-sensitive inward rectifier potassium channel 11, beta-cell inward rectifier subunit, inwardly rectifying potassium channel KIR6.2