Aliases for HK1 Gene
External Ids for HK1 Gene
Previous GeneCards Identifiers for HK1 Gene
Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This 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 this 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. A sixth transcript variant has been described, but due to the presence of several stop codons, it is not thought to encode a protein. [provided by RefSeq, Apr 2009]
GeneCards Summary for HK1 Gene
HK1 (Hexokinase 1) is a Protein Coding gene. Diseases associated with HK1 include hemolytic anemia due to hexokinase deficiency and neuropathy, hereditary motor and sensory, russe type. Among its related pathways are Central carbon metabolism in cancer and Metabolism. GO annotations related to this gene include phosphotransferase activity, alcohol group as acceptor and glucokinase activity. An important paralog of this gene is HK2.
Hexokinases catalyze the first essential step of glucose metabolism, the conversion of the substrate glucose into glucose-6-phosphate. This phosphorylation event directly couples extramitochondrial glycolysis to intramitochondrial oxidative phosphorylation.