Abstract
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.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Adenosine Triphosphate / pharmacology
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Amino Acid Sequence
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Animals
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Base Sequence
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Chromosome Mapping
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Chromosomes, Human, Pair 21
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Cloning, Molecular
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Diabetes Mellitus, Type 2 / genetics
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G Protein-Coupled Inwardly-Rectifying Potassium Channels
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Genetic Variation*
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Humans
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In Situ Hybridization, Fluorescence
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Molecular Sequence Data
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Polymorphism, Single-Stranded Conformational
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Potassium Channels / chemistry
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Potassium Channels / genetics*
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Potassium Channels, Inwardly Rectifying*
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Rats
Substances
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G Protein-Coupled Inwardly-Rectifying Potassium Channels
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KCNJ6 protein, human
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Potassium Channels
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Potassium Channels, Inwardly Rectifying
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Adenosine Triphosphate
Associated data
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GENBANK/S78684
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GENBANK/S78685