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The ATP-sensitive K-channel plays a central role in insulin release from pancreatic beta-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 beta-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 Asp-328: GAC-GAT) with similar frequencies in normal and non-insulin-dependent diabetic patients.

Type

Journal article

Journal

FEBS Lett

Publication Date

26/06/1995

Volume

367

Pages

193 - 197

Keywords

Adenosine Triphosphate, Amino Acid Sequence, Animals, Base Sequence, Chromosome Mapping, Chromosomes, Human, Pair 21, Cloning, Molecular, Diabetes Mellitus, Type 2, G Protein-Coupled Inwardly-Rectifying Potassium Channels, Genetic Variation, Humans, In Situ Hybridization, Fluorescence, Molecular Sequence Data, Polymorphism, Single-Stranded Conformational, Potassium Channels, Potassium Channels, Inwardly Rectifying, Rats