| Entrez gene ID | | 3767 |
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| Official gene symbol | | KCNJ11 |
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| Full name | | potassium inwardly-rectifying channel, subfamily J, member 11 |
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| Aliases | | ,BIR,HHF2,IKATP,KIR6.2,MGC133230,PHHI,TNDM3, |
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| Gene 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] |
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| Location | | Chromosome: 11 Locus: 11p15.1 |
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| Gene position | | 17410878 - 17406795 Map Viewer |
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| Gene orientation | | minus |
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| Gene size | | 4084 bp |
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| Gene sequence |
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| OMIM ID | | 600937 |
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