Structure of the human hexokinase II gene.
Mutations in the gene encoding hexokinase II which catalyzes a key step in glycolysis could contribute to the development of peripheral insulin resistance and lead to non-insulin-dependent diabetes mellitus. As a first step towards screening patients for mutations in this gene, we have determined its structure and the sequence of exon-intron junctions. The human HKII gene is composed of 18 exons that span at least 40 kb, and its organization is highly homologous to that of the rat gene. A hexokinase II processed pseudogene was discovered while screening a human genomic library. The coding sequence of this pseudogene is uninterrupted by introns and contains at least one premature stop codon.
Malkki
M
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Department of Medicine, University of Washington, Seattle 98195.
Laakso
M
M
Deeb
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SS
D001483:Base Sequence; D018076:DNA, Complementary; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics; D005091:Exons; D006593:Hexokinase / Q000235:genetics*; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D011544:Pseudogenes
D018076:DNA, Complementary; D006593:Hexokinase