Gene Symbol | HK1 |
Entrez Gene ID | 3098 |
Full Name | hexokinase 1 |
Synonyms | HK,HK1-ta,HK1-tb,HK1-tc,HKD,HKI,HMSNR,HXK1,RP79,hexokinase |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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 several transcript variants which encode different isoforms, some of which are tissue-specific. [provided by RefSeq, Apr 2016]. |
Disorder MIM: | |
Disorder Html: | Hemolytic anemia due to hexokinase deficiency, 235700 (3); Neuropathy, hereditary motor and sensory, Russe type, 605285 (3); Retinitis pigmentosa 79, 617460 (3) |