| Entrez Gene ID | 3098 |
|---|---|
| Official Gene Symbol | HK1 (GeneCards) |
| Full name | hexokinase 1 |
| Location | 10q22.1 |
| Other ids | Vega : OTTHUMG00000018380 MIM : 142600 HGNC : HGNC:4922 Ensembl : ENSG00000156515 |
| Other names | HK, HKD, HKI, HXK1, RP79, HMSNR, HK1-ta, HK1-tb, HK1-tc, hexokinase |
| 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] |
Found 2 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 14240 | 3098 | HK1 | 10 | 71038150 | 71038150 | Asymptomatic | HiSeq X Ten |
| 29255 | 3098 | HK1 | 10 | 71158430 | 71158430 | Autism Spectrum Disorders | HiSeq X Ten PASM |