Gene: HK1

Alternate names for this Gene: HK|HK1-ta|HK1-tb|HK1-tc|HKD|HKI|HMSNR|HXK1|NEDVIBA|RP79|hexokinase

Gene 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.

Gene is located in Chromosome: 10

Location in Chromosome : 10q22.1

Description of this Gene: hexokinase 1

Type of Gene: protein-coding

rs11596587 in HK1 gene and Cardioembolic stroke PMID 29531354 2018 Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes.

rs10159477 in HK1 gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

rs2278745 in HK1 gene and Eye Color PMID 29109912 2017 Genome-wide association study of pigmentary traits (skin and iris color) in individuals of East Asian ancestry.

rs17476364 in HK1 gene and Finding of Mean Corpuscular Hemoglobin PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs137853249 in HK1 gene and HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY PMID 12393545 2003 HK Utrecht: missense mutation in the active site of human hexokinase associated with hexokinase deficiency and severe nonspherocytic hemolytic anemia.

PMID 7655856 1995 Hexokinase mutations that produce nonspherocytic hemolytic anemia.

rs16926246 in HK1 gene and Hematocrit procedure PMID 19862010 2009 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs10823343 in HK1 gene and Hemoglobin A measurement PMID 29844224 2018 Genome-Wide Association Study of Serum Fructosamine and Glycated Albumin in Adults Without Diagnosed Diabetes: Results From the Atherosclerosis Risk in Communities Study.

rs10159477 in HK1 gene and Hemoglobin measurement PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

PMID 28017375 2017 Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis.

PMID 19862010 2009 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs16926246 in HK1 gene and Hemoglobin, CTCAE PMID 19862010 2009 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

rs17476364 in HK1 gene and Mean Corpuscular Volume (result) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs797044964 in HK1 gene and Neuropathy, hereditary motor and sensory, Russe type PMID 23996628 2013 Founder mutations in NDRG1 and HK1 genes are common causes of inherited neuropathies among Roma/Gypsies in Slovakia.

PMID 22978647 2013 Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth.

PMID 10915613 2000 A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23.

PMID 11601496 2001 Hereditary motor and sensory neuropathy-russe: new autosomal recessive neuropathy in Balkan Gypsies.

rs17476364 in HK1 gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs777849213 in HK1 gene and RETINITIS PIGMENTOSA 79 PMID 25190649 2014 A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa.

PMID 26427411 2016 Identification of a Novel Gene on 10q22.1 Causing Autosomal Dominant Retinitis Pigmentosa (adRP).

PMID 25316723 2014 A missense mutation in HK1 leads to autosomal dominant retinitis pigmentosa.

PMID 28765615 2017 The phenotypic variability of HK1-associated retinal dystrophy.

rs10159477 in HK1 gene and Red Blood Cell Count measurement PMID 19862010 2009 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs17476364 in HK1 gene and Red cell distribution width determination PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs17476364 in HK1 gene and Reticulocyte count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.