基因名：
KCNJ11
产品别名：
BIR； HHF2； IKATP； KIR6.2； MODY13； PHHI； PNDM2； TNDM3； KCNJ11； potassium inwardly rectifying channel subfamily J member 11； potassium inwardly rectifying channel subfamily J member 11； ATP-sensitive inward rectifier potassium channel 11； beta-cell inward rectifier subunit； inward rectifier K(+) channel Kir6.2； inwardly rectifing potassium channel subfamily J member 11； inwardly rectifying potassium channel KIR6.2； inwardly-rectifying potassium channel subfamily J member 11； potassium channel inwardly rectifing subfamily J member 11； potassium channel, inwardly rectifying subfamily J member 11； potassium voltage-gated channel subfamily J member 11； ATP敏感性钾通道亚基kir6.2； 磷酸化ATP敏感性钾通道亚基kir6.2；
背景信息：
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]
