Literature DB >> 9533018

The inwardly rectifying potassium channel subunit Kir2.2v (KCNJN1) maps to 17p11.2-->p11.1.

N Namba1, R Mori, H Tanaka, I Kondo, K Narahara, Y Seino.   

Abstract

Inwardly rectifying K+ (Kir) channels play important roles in various cellular functions in excitable and non-excitable cells. We recently cloned the human genes encoding the Kir channel subunits Kir2.2v (KCNJN1) and Kir2.2 (KCNJ12). However, the physiological role of Kir2.2v has not yet been clarified. Fluorescence in situ hybridization analysis of human metaphase chromosomes assigned both genes to 17p11.2-->p11.1. The presence of hybridization signals in the paracentromeric regions of both chromosomes 17 from two Smith-Magenis syndrome (SMS) patients indicated that Kir2.2v and Kir2.2 are not located within the minimum critical region of this syndrome.

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Year:  1997        PMID: 9533018     DOI: 10.1159/000134688

Source DB:  PubMed          Journal:  Cytogenet Cell Genet        ISSN: 0301-0171


  2 in total

1.  Whole genome and exome sequencing realignment supports the assignment of KCNJ12, KCNJ17, and KCNJ18 paralogous genes in thyrotoxic periodic paralysis locus: functional characterization of two polymorphic Kir2.6 isoforms.

Authors:  Rolf M Paninka; Diego R Mazzotti; Marina M L Kizys; Angela C Vidi; Hélio Rodrigues; Silas P Silva; Ilda S Kunii; Gilberto K Furuzawa; Manoel Arcisio-Miranda; Magnus R Dias-da-Silva
Journal:  Mol Genet Genomics       Date:  2016-03-23       Impact factor: 3.291

2.  Mutations in potassium channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis.

Authors:  Devon P Ryan; Magnus R Dias da Silva; Tuck Wah Soong; Bertrand Fontaine; Matt R Donaldson; Annie W C Kung; Wallaya Jongjaroenprasert; Mui Cheng Liang; Daphne H C Khoo; Jin Seng Cheah; Su Chin Ho; Harold S Bernstein; Rui M B Maciel; Robert H Brown; Louis J Ptácek
Journal:  Cell       Date:  2010-01-08       Impact factor: 41.582

  2 in total

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