Characterization and variation of a human inwardly-rectifying K-channel gene (KCNJ6): a putative ATP-sensitive K-channel subunit

Hiroshi Sakura, Chris Bond, Margaret Warren-Perry, Sharon Horsley, Lyndal Kearney, Stephen Tucker, John Adelman, Robert Turner, Frances M. Ashcroft

Research output: Contribution to journalArticlepeer-review

48 Scopus citations

Abstract

The ATP-sensitive K-channel plays a central role in insulin release from pancreatic β-cells. We report here the cloning of the gene (KCNJ6) encoding a putative subunit of a human ATP-sensitive K-channel expressed in brain and β-cells, and characterisation of its exon-intron structure. Screening of a somatic cell mapping panel and fluorescent in situ hybridization place the gene on chromosome 21 (21q22.1-22.2). Analysis of single-stranded conformational polymorphisms revealed the presence of two silent polymorphisms (Pro-149: CCG-CCA and Asp328: GAC-GAT) with similar frequencies in normal and non-insulin-dependent diabetic patients.

Original languageEnglish (US)
Pages (from-to)193-197
Number of pages5
JournalFEBS Letters
Volume367
Issue number2
DOIs
StatePublished - Jun 26 1995

Keywords

  • ATP-sensitive K-channel
  • BIR1
  • Diabetes
  • KCNJ6
  • Pancreatic β-cell

ASJC Scopus subject areas

  • Biophysics
  • Structural Biology
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Cell Biology

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