Gene Symbol | KCNK9 |
Entrez Gene ID | 51305 |
Full Name | potassium two pore domain channel subfamily K member 9 |
Synonyms | K2p9.1,KT3.2,TASK-3,TASK3 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a protein that contains multiple transmembrane regions and two pore-forming P domains and functions as a pH-dependent potassium channel. Amplification and overexpression of this gene have been observed in several types of human carcinomas. This gene is imprinted in the brain, with preferential expression from the maternal allele. A mutation in this gene was associated with Birk-Barel dysmorphism syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]. |
Disorder MIM: | |
Disorder Html: | Birk-Barel mental retardation dysmorphism syndrome, 612292 (3) |