Characterization and variation of a human inwardly-rectifying K-channel gene (KCNJ6): a putative ATP-sensitive K-channel subunit
Sakura H., Bond C., Warren-Perry M., Horsley S., Kearney L., Tucker S., Adelman J., Turner R., Ashcroft FM.
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. © 1995.