Description
Hexokinases phosphorylate glucose to produce glucose-6-phosphate, thus committing glucose to the glycolytic pathway. The hexokinase gene encodes a ubiquitous form of hexokinase which localizes to the outer membrane of mitochondria. Mutations in this gene have been associated with hemolytic anemia due to hexokinase deficiency. Alternative splicing of the hexokinase gene results in five transcript variants which encode different isoforms, some of which are tissue-specific. Each isoform has a distinct N-terminus; the remainder of the protein is identical among all the isoforms. HK1 encodes the ubiquitously expressed isoform. Its 5' end includes an exon which is unique to this transcript and which encodes a distinct N-terminus that contains the porin binding domain (PBD). The porin binding domain mediates association with the mitochondrial membrane