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

[摘要]

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: CC-CC and Asp328: GA-GA) with similar frequencies in normal and non-insulin-dependent diabetic patients.

[学科分类] 生物化学/生物物理

[关键词] ATP-sensitive K-channel;Pancreatic β-cell;Diabetes;BIR1;KCNJ6