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NEDVIBA

Chr 10AD

hexokinase 1

Also known as: CNSHA5, HK, HK1-ta, HK1-tb, HK1-tc, HKD, HKI, HMSNR

NCBI Gene: 3098 OMIM: 618547

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.

OMIM ResearchSummary from RefSeq, OMIM

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]

OMIM ResearchGenerating clinical summary…

AD1 OMIM phenotype

Clinical Summary— NEDVIBA

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Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/NEDVIBA?content-type=application/json&expand=1

gnomad: Error: Gene not found