Structure of the human hexokinase II gene

Biochem Biophys Res Commun. 1994 Nov 30;205(1):490-6. doi: 10.1006/bbrc.1994.2692.

Abstract

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.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Base Sequence
  • DNA, Complementary
  • Diabetes Mellitus, Type 2 / genetics
  • Exons
  • Hexokinase / genetics*
  • Humans
  • Introns
  • Molecular Sequence Data
  • Mutation
  • Polymerase Chain Reaction
  • Pseudogenes

Substances

  • DNA, Complementary
  • Hexokinase