| KCNT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | KCNT1, EIEE14, ENFL5, KCa4.1, SLACK, bA100C15.2, Slo2.2, potassium sodium-activated channel subfamily T member 1, DEE14 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 608167; MGI: 1924627; HomoloGene: 11055; GeneCards: KCNT1; OMA:KCNT1 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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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
Associated Conditions
Mutations in the KCNT1 gene has been shown to be a cause of Early Infantile Epileptic Encephalopathy.
See also
References
- ^ GRCh38: Ensembl release 89: ENSG00000107147 – Ensembl, May 2017
- ^ GRCm38: Ensembl release 89: ENSMUSG00000058740 – Ensembl, May 2017
- "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Entrez Gene: KCNT1 potassium channel, subfamily T, member 1".
- "OMIM: 614959".
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Further reading
- Nagase T, Kikuno R, Ishikawa KI, et al. (2000). "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. doi:10.1093/dnares/7.1.65. PMID 10718198.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
- Humphray SJ, Oliver K, Hunt AR, et al. (2004). "DNA sequence and analysis of human chromosome 9". Nature. 429 (6990): 369–74. Bibcode:2004Natur.429..369H. doi:10.1038/nature02465. PMC 2734081. PMID 15164053.
- Wei AD, Gutman GA, Aldrich R, et al. (2005). "International Union of Pharmacology. LII. Nomenclature and molecular relationships of calcium-activated potassium channels". Pharmacol. Rev. 57 (4): 463–72. doi:10.1124/pr.57.4.9. PMID 16382103. S2CID 8290401.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
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| Membrane transport protein: ion channels (TC 1A) | |||||||||||||||||
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