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NEDVIBA
Chr 10ADhexokinase 1
Also known as: CNSHA5, HK, HK1-ta, HK1-tb, HK1-tc, HKD, HKI, HMSNR
Hexokinase I phosphorylates glucose to glucose-6-phosphate in the first step of glucose metabolism and localizes to the outer mitochondrial membrane. Mutations cause a neurodevelopmental disorder with visual defects and brain anomalies, inherited in an autosomal dominant pattern. This represents an expansion of the phenotypic spectrum beyond the previously described hemolytic anemia associated with hexokinase deficiency.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/NEDVIBA?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NEDVIBA · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
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Links to major genomics databases and tools