[cite web | title = Entrez Gene: KCNE1 potassium voltage-gated channel, Isk-related family, member 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3753| accessdate = ] ]KCNE1 is a gene associated with Long QT syndrome type 5. It can both cause Romano-Wards syndrome (heterozygotes) and Jervell Lange-Nielsens syndrome (homozygotes)
ee also
* Jervell and Lange-Nielsen syndrome
* Voltage-gated potassium channel
References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Murai T, Kakizuka A, Takumi T, "et al." |title=Molecular cloning and sequence analysis of human genomic DNA encoding a novel membrane protein which exhibits a slowly activating potassium channel activity. |journal=Biochem. Biophys. Res. Commun. |volume=161 |issue= 1 |pages= 176–81 |year= 1989 |pmid= 2730656 |doi=
*cite journal | author=Malo MS, Srivastava K, Ingram VM |title=Gene assignment by polymerase chain reaction: localization of the human potassium channel IsK gene to the Down's syndrome region of chromosome 21q22.1-q22.2. |journal=Gene |volume=159 |issue= 2 |pages= 273–5 |year= 1995 |pmid= 7622063 |doi=
*cite journal | author=Lai LP, Deng CL, Moss AJ, "et al." |title=Polymorphism of the gene encoding a human minimal potassium ion channel (minK). |journal=Gene |volume=151 |issue= 1-2 |pages= 339–40 |year= 1995 |pmid= 7828904 |doi=
*cite journal | author=Chevillard C, Attali B, Lesage F, "et al." |title=Localization of a potassium channel gene (KCNE1) to 21q22.1-q22.2 by in situ hybridization and somatic cell hybridization. |journal=Genomics |volume=15 |issue= 1 |pages= 243–5 |year= 1993 |pmid= 8432548 |doi= 10.1006/geno.1993.1051
*cite journal | author=Tesson F, Donger C, Denjoy I, "et al." |title=Exclusion of KCNE1 (IsK) as a candidate gene for Jervell and Lange-Nielsen syndrome. |journal=J. Mol. Cell. Cardiol. |volume=28 |issue= 9 |pages= 2051–5 |year= 1997 |pmid= 8899564 |doi=
*cite journal | author=Sanguinetti MC, Curran ME, Zou A, "et al." |title=Coassembly of K(V)LQT1 and minK (IsK) proteins to form cardiac I(Ks) potassium channel. |journal=Nature |volume=384 |issue= 6604 |pages= 80–3 |year= 1996 |pmid= 8900283 |doi= 10.1038/384080a0
*cite journal | author=Neyroud N, Tesson F, Denjoy I, "et al." |title=A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome. |journal=Nat. Genet. |volume=15 |issue= 2 |pages= 186–9 |year= 1997 |pmid= 9020846 |doi= 10.1038/ng0297-186
*cite journal | author=McDonald TV, Yu Z, Ming Z, "et al." |title=A minK-HERG complex regulates the cardiac potassium current I(Kr). |journal=Nature |volume=388 |issue= 6639 |pages= 289–92 |year= 1997 |pmid= 9230439 |doi= 10.1038/40882
*cite journal | author=Chouabe C, Neyroud N, Guicheney P, "et al." |title=Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias. |journal=EMBO J. |volume=16 |issue= 17 |pages= 5472–9 |year= 1997 |pmid= 9312006 |doi= 10.1093/emboj/16.17.5472
*cite journal | author=Tyson J, Tranebjaerg L, Bellman S, "et al." |title=IsK and KvLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome. |journal=Hum. Mol. Genet. |volume=6 |issue= 12 |pages= 2179–85 |year= 1997 |pmid= 9328483 |doi=
*cite journal | author=Schulze-Bahr E, Wang Q, Wedekind H, "et al." |title=KCNE1 mutations cause jervell and Lange-Nielsen syndrome. |journal=Nat. Genet. |volume=17 |issue= 3 |pages= 267–8 |year= 1997 |pmid= 9354783 |doi= 10.1038/ng1197-267
*cite journal | author=Splawski I, Tristani-Firouzi M, Lehmann MH, "et al." |title=Mutations in the hminK gene cause long QT syndrome and suppress IKs function. |journal=Nat. Genet. |volume=17 |issue= 3 |pages= 338–40 |year= 1997 |pmid= 9354802 |doi= 10.1038/ng1197-338
*cite journal | author=Duggal P, Vesely MR, Wattanasirichaigoon D, "et al." |title=Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of Long-QT syndrome. |journal=Circulation |volume=97 |issue= 2 |pages= 142–6 |year= 1998 |pmid= 9445165 |doi=
*cite journal | author=Bianchi L, Shen Z, Dennis AT, "et al." |title=Cellular dysfunction of LQT5-minK mutants: abnormalities of IKs, IKr and trafficking in long QT syndrome. |journal=Hum. Mol. Genet. |volume=8 |issue= 8 |pages= 1499–507 |year= 1999 |pmid= 10400998 |doi=
*cite journal | author=Piccini M, Vitelli F, Seri M, "et al." |title=KCNE1-like gene is deleted in AMME contiguous gene syndrome: identification and characterization of the human and mouse homologs. |journal=Genomics |volume=60 |issue= 3 |pages= 251–7 |year= 1999 |pmid= 10493825 |doi= 10.1006/geno.1999.5904
*cite journal | author=Hattori M, Fujiyama A, Taylor TD, "et al." |title=The DNA sequence of human chromosome 21. |journal=Nature |volume=405 |issue= 6784 |pages= 311–9 |year= 2000 |pmid= 10830953 |doi= 10.1038/35012518
*cite journal | author=Splawski I, Shen J, Timothy KW, "et al." |title=Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. |journal=Circulation |volume=102 |issue= 10 |pages= 1178–85 |year= 2000 |pmid= 10973849 |doi=
*cite journal | author=Melman YF, Domènech A, de la Luna S, McDonald TV |title=Structural determinants of KvLQT1 control by the KCNE family of proteins. |journal=J. Biol. Chem. |volume=276 |issue= 9 |pages= 6439–44 |year= 2001 |pmid= 11104781 |doi= 10.1074/jbc.M010713200
*cite journal | author=Schulze-Bahr E, Schwarz M, Hauenschild S, "et al." |title=A novel long-QT 5 gene mutation in the C-terminus (V109I) is associated with a mild phenotype. |journal=J. Mol. Med. |volume=79 |issue= 9 |pages= 504–9 |year= 2002 |pmid= 11692163 |doi= 10.1007/s001090100249
*cite journal | author=Furukawa T, Ono Y, Tsuchiya H, "et al." |title=Specific interaction of the potassium channel beta-subunit minK with the sarcomeric protein T-cap suggests a T-tubule-myofibril linking system. |journal=J. Mol. Biol. |volume=313 |issue= 4 |pages= 775–84 |year= 2001 |pmid= 11697903 |doi= 10.1006/jmbi.2001.5053
External links
*
PBB_Controls
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