HK3

Chr 5

hexokinase 3

Also known as: HKIII, HXK3

NCBI Gene: 3101 ENSG00000160883 UniProt: P52790 OMIM: 142570

Hexokinase 3 catalyzes the phosphorylation of glucose to glucose-6-phosphate, the initial step of glycolysis and glucose metabolism pathways. Biallelic mutations cause severe infantile-onset epileptic encephalopathy with developmental delay, hypotonia, and movement disorders. This gene follows autosomal recessive inheritance and is not highly constrained against loss-of-function variants.

OMIM ResearchSummary from RefSeq, UniProt

Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes hexokinase 3. Similar to hexokinases 1 and 2, this allosteric enzyme is inhibited by its product glucose-6-phosphate. [provided by RefSeq, Apr 2009]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.17

LOEUF

Mechanism· predicted