| Gene Symbol | KCNJ11 |
| Entrez Gene ID | 3767 |
| Full Name | potassium voltage-gated channel subfamily J member 11 |
| Synonyms | BIR,HHF2,IKATP,KIR6.2,MODY13,PHHI,TNDM3 |
| General protein information |
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| Gene Type | protein-coding |
| Organism | Homo sapiens(human) |
| Genome | |
| Summary | 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]. |
| Disorder MIM: | |
| Disorder Html: | Hyperinsulinemic hypoglycemia, familial, 2, 601820 (3); Diabetes, permanent neonatal, with or without neurologic features, 606176 (3); {Diabetes mellitus, type 2, susceptibility to}, 125853 (3); Diabetes mellitus, transient neonatal, 3, 610582 (3); Maturity-onset diabetes of the young, type 13, 616329 (3) |
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