Gene Symbol | KCNJ6 |
Entrez Gene ID | 3763 |
Full Name | potassium voltage-gated channel subfamily J member 6 |
Synonyms | BIR1,GIRK-2,GIRK2,KATP-2,KATP2,KCNJ7,KIR3.2,KPLBS,hiGIRK2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of the G protein-coupled inwardly-rectifying potassium channel family of inward rectifier potassium channels. This type of potassium channel allows a greater flow of potassium into the cell than out of it. These proteins modulate many physiological processes, including heart rate in cardiac cells and circuit activity in neuronal cells, through G-protein coupled receptor stimulation. Mutations in this gene are associated with Keppen-Lubinsky Syndrome, a rare condition characterized by severe developmental delay, facial dysmorphism, and intellectual disability. [provided by RefSeq, Apr 2015]. |
Disorder MIM: | |
Disorder Html: | Keppen-Lubinsky syndrome, 614098 (3) |