HK1 hexokinase 1
Gene ID: 3098, updated on 19-Jun-2024Gene type: protein coding
Also known as: HK; HKD; HKI; HXK1; NMSR; RP79; HMSNR; HK1-ta; HK1-tb; HK1-tc; NEDVIBA; hexokinase
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- Go to complete Gene record for HK1
- Go to Variation Viewer for HK1 variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Charcot-Marie-Tooth disease type 4G | See labs |
| Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways. GeneReviews: Not available | |
| Genome-wide association study of hematological and biochemical traits in a Japanese population. GeneReviews: Not available | |
| Hemolytic anemia due to hexokinase deficiency | See labs |
| Identification of HKDC1 and BACE2 as genes influencing glycemic traits during pregnancy through genome-wide association studies. GeneReviews: Not available | |
| Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. GeneReviews: Not available | |
| Neurodevelopmental disorder with visual defects and brain anomalies | See labs |
| Novel association of HK1 with glycated hemoglobin in a non-diabetic population: a genome-wide evaluation of 14,618 participants in the Women's Genome Health Study. GeneReviews: Not available | |
| Retinitis pigmentosa 79 | See labs |
| Seventy-five genetic loci influencing the human red blood cell. GeneReviews: Not available |
Genomic context
- Location:
- 10q22.1
- Sequence:
- Chromosome: 10; NC_000010.11 (69270000..69401882)
- Total number of exons:
- 29
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for HK1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- HK1 database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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