HK1 Chromosome 10
Hexokinase 1
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What This Gene Does
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]
Gene Info
Gene Group
Hexokinase family
Locus Type
gene with protein product
Location
10q22.1
Ensembl
ENSG00000156515
Associated Conditions (12)
Inborn genetic diseases
Hemolytic anemia due to hexokinase deficiency
Charcot-Marie-Tooth disease type 4G
Retinal dystrophy
Neurodevelopmental disorder with visual defects and brain anomalies
Retinitis pigmentosa 79
Neurodevelopmental abnormality
HK1-related disorder
Retinitis pigmentosa
Autism spectrum disorder
Neurodevelopmental delay
See cases
Key Variants
RS1024684465
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1218129705
Conflicting classifications of pathogenicity
Health Risk
RS1351261560
Conflicting classifications of pathogenicity
Health Risk
RS138492927
Conflicting classifications of pathogenicity
Health Risk
RS1397953530
Conflicting classifications of pathogenicity
Health Risk
RS1477062289
Conflicting classifications of pathogenicity
Health Risk
RS1840255421
Conflicting classifications of pathogenicity
Hemolytic anemia due to hexokinase deficiency, Hemolytic anemia due to hexokinase deficiency
Health Risk
RS2540327631
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4G, Charcot-Marie-Tooth disease type 4G
Health Risk
RS397514654
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4G, Hemolytic anemia due to hexokinase deficiency, Charcot-Marie-Tooth disease type 4G
Health Risk
RS545102911
Conflicting classifications of pathogenicity
Health Risk
RS756166032
Conflicting classifications of pathogenicity
Hemolytic anemia due to hexokinase deficiency, Hemolytic anemia due to hexokinase deficiency
Health Risk
RS760127339
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
All Variants (41)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1024684465 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1218129705 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1351261560 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS138492927 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1397953530 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1477062289 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1840255421 | Health Risk | Conflicting classifications of pathogenicity | Hemolytic anemia due to hexokinase deficiency, Hemolytic anemia due to hexokinase deficiency |
| RS2540327631 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4G, Charcot-Marie-Tooth disease type 4G |
| RS397514654 | Health Risk | Conflicting classifications of pathogenicity | Charcot-Marie-Tooth disease type 4G, Hemolytic anemia due to hexokinase deficiency, Charcot-Marie-Tooth disease type 4G |
| RS545102911 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS756166032 | Health Risk | Conflicting classifications of pathogenicity | Hemolytic anemia due to hexokinase deficiency, Hemolytic anemia due to hexokinase deficiency |
| RS760127339 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS769395943 | Health Risk | Conflicting classifications of pathogenicity | Hemolytic anemia due to hexokinase deficiency, Hemolytic anemia due to hexokinase deficiency |
| RS770824752 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS772324426 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS774579560 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS780576140 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with visual defects and brain anomalies, Retinal dystrophy, Neurodevelopmental disorder with visual defects and brain anomalies |
| RS1057517928 | Health Risk | Likely pathogenic | Retinitis pigmentosa 79, Hemolytic anemia due to hexokinase deficiency, Charcot-Marie-Tooth disease type 4G |
| RS1322472709 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with visual defects and brain anomalies, Neurodevelopmental disorder with visual defects and brain anomalies |
| RS1564557037 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with visual defects and brain anomalies, Neurodevelopmental abnormality, Charcot-Marie-Tooth disease type 4G |
| RS1589439508 | Health Risk | Likely pathogenic | Charcot-Marie-Tooth disease type 4G, Hemolytic anemia due to hexokinase deficiency, Charcot-Marie-Tooth disease type 4G |
| RS187500777 | Health Risk | Likely pathogenic | HK1-related disorder, Hemolytic anemia due to hexokinase deficiency, HK1-related disorder |
| RS2132884703 | Health Risk | Likely pathogenic | Hemolytic anemia due to hexokinase deficiency, Hemolytic anemia due to hexokinase deficiency |
| RS2540244684 | Health Risk | Likely pathogenic | — |
| RS2540349751 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2540369148 | Health Risk | Likely pathogenic | Retinitis pigmentosa 79, Retinitis pigmentosa 79 |
| RS2540369572 | Health Risk | Likely pathogenic | — |
| RS137853249 | Health Risk | Pathogenic | Hemolytic anemia due to hexokinase deficiency, Hemolytic anemia due to hexokinase deficiency |
| RS1460702652 | Health Risk | Pathogenic | — |
| RS2132973641 | Health Risk | Pathogenic | — |
| RS2540327612 | Health Risk | Pathogenic | — |
| RS2540349993 | Health Risk | Pathogenic | — |
| RS398122379 | Health Risk | Pathogenic | Hemolytic anemia due to hexokinase deficiency, Hemolytic anemia due to hexokinase deficiency |
| RS747715551 | Health Risk | Pathogenic | — |
| RS760487849 | Health Risk | Pathogenic | Neurodevelopmental disorder with visual defects and brain anomalies, Neurodevelopmental disorder with visual defects and brain anomalies |
| RS1064794848 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with visual defects and brain anomalies, Retinitis pigmentosa, Retinitis pigmentosa 79 |
| RS1064795154 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with visual defects and brain anomalies, Neurodevelopmental disorder with visual defects and brain anomalies |
| RS1176654400 | Health Risk | Pathogenic/Likely pathogenic | Hemolytic anemia due to hexokinase deficiency, Hemolytic anemia due to hexokinase deficiency |
| RS2132871580 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental delay, Retinitis pigmentosa 79, Neurodevelopmental disorder with visual defects and brain anomalies |
| RS777849213 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 79, Retinal dystrophy, See cases |
| RS779250530 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease type 4G, Neurodevelopmental disorder with visual defects and brain anomalies, Charcot-Marie-Tooth disease type 4G |