KCNT1 explained
Potassium channel subfamily T, member 1, also known as KCNT1 is a human gene that encodes the KCa4.1 protein. KCa4.1 is a member of the calcium-activated potassium channel protein family [1]
Associated Conditions
Mutations in the KCNT1 gene has been shown to be a cause of Early Infantile Epileptic Encephalopathy. [2]
See also
Further reading
- Nagase T, Kikuno R, Ishikawa KI, etal . Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. . DNA Res. . 7 . 1 . 65–73 . 2000 . 10718198 . 10.1093/dnares/7.1.65 . free .
- Strausberg RL, Feingold EA, Grouse LH, etal . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2002 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .
- Kimura K, Wakamatsu A, Suzuki Y, etal . Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. . Genome Res. . 16 . 1 . 55–65 . 2006 . 16344560 . 10.1101/gr.4039406 . 1356129 .
- Humphray SJ, Oliver K, Hunt AR, etal . DNA sequence and analysis of human chromosome 9. . Nature . 429 . 6990 . 369–74 . 2004 . 15164053 . 10.1038/nature02465 . 2734081 . 2004Natur.429..369H .
- Wei AD, Gutman GA, Aldrich R, etal . International Union of Pharmacology. LII. Nomenclature and molecular relationships of calcium-activated potassium channels. . Pharmacol. Rev. . 57 . 4 . 463–72 . 2005 . 16382103 . 10.1124/pr.57.4.9 . 8290401 .
- Ota T, Suzuki Y, Nishikawa T, etal . Complete sequencing and characterization of 21,243 full-length human cDNAs. . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . free .
Notes and References
- Web site: Entrez Gene: KCNT1 potassium channel, subfamily T, member 1.
- Web site: OMIM: 614959.