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pmid: 10913335
The human KCNJ9 (Kir 3.3, GIRK3) is a member of the G-protein-activated inwardly rectifying potassium (GIRK) channel family. Here we describe the genomic organization of the KCNJ9 locus on chromosome 1q21-23 as a candidate gene for Type II diabetes mellitus in the Pima Indian population. The gene spans approximately 7.6 kb and contains one noncoding and two coding exons separated by approximately 2.2 and approximately 2.6 kb introns, respectively. We identified 14 single nucleotide polymorphisms (SNPs), including one that predicts a Val366Ala substitution, and an 8 base-pair (bp) insertion/deletion. Our expression studies revealed the presence of the transcript in various human tissues including pancreas, and two major insulin-responsive tissues: fat and skeletal muscle. The characterization of the KCNJ9 gene should facilitate further studies on the function of the KCNJ9 protein and allow evaluation of the potential role of the locus in Type II diabetes.
Genomic Library, Polymorphism, Genetic, Potassium Channels, Base Sequence, Molecular Sequence Data, Exons, Regulatory Sequences, Nucleic Acid, Introns, Alternative Splicing, Adipose Tissue, Asian People, Diabetes Mellitus, Type 2, G Protein-Coupled Inwardly-Rectifying Potassium Channels, Organ Specificity, Indians, North American, Humans, Potassium Channels, Inwardly Rectifying, Promoter Regions, Genetic, 3' Untranslated Regions, Pancreas
Genomic Library, Polymorphism, Genetic, Potassium Channels, Base Sequence, Molecular Sequence Data, Exons, Regulatory Sequences, Nucleic Acid, Introns, Alternative Splicing, Adipose Tissue, Asian People, Diabetes Mellitus, Type 2, G Protein-Coupled Inwardly-Rectifying Potassium Channels, Organ Specificity, Indians, North American, Humans, Potassium Channels, Inwardly Rectifying, Promoter Regions, Genetic, 3' Untranslated Regions, Pancreas
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