Partial gene structure and assignment to chromosome 2q37 of the human inwardly rectifying K+ channel (Kir7.1) gene (KCNJ13) |
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| Authors: | C Derst F D?ring R Preisig-Müller J Daut A Karschin N Jeck S Weber H Engel KH Grzeschik |
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| Affiliation: | Institute for Normal and Pathological Physiology, University of Marburg, Marburg, 35033, Germany. derst2@mailer.uni-marburg.de |
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| Abstract: | The novel weakly inward rectifying potassium channel Kir7.1 is a low-conductance channel that is predominantly expressed in epithelial cells. Here we describe a partial genomic characterization and the chromosomal assignment of the human Kir7.1 gene (KCNJ13). Analysis of the genomic structure using a PCR-based approach revealed a single 2088-bp intron in the coding region of KCNJ13. PCR analysis of monochromosomal and radiation hybrid panels assigns KCNJ13 to band 2q37 between markers D2S331 and D2S345. In addition, a single nucleotide polymorphism (C524-->T), leading to an exchange of a Thr with an Ile residue at amino acid position 175, was found. |
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