Disease	Score

Substances	Interaction	Organism	Category

Substances	Interaction	Organism	Category

     From NCBI Gene: Hemolytic anemia due to hexokinase deficiencyCharcot-Marie-Tooth disease, type 4GFrom UniProt: Hexokinase deficiency (HK deficiency): Rare autosomal recessive disease with nonspherocytic hemolytic anemia as the predominant clinical feature. [MIM:235700] Neuropathy, hereditary motor and sensory, Russe type (HMSNR): An autosomal recessive progressive complex peripheral neuropathy characterized by onset in the first decade of distal lower limb weakness and muscle atrophy resulting in walking difficulties. Distal impairment of the upper limbs usually occurs later, as does proximal lower limb weakness. There is distal sensory impairment, with pes cavus and areflexia. Laboratory studies suggest that it is a myelinopathy resulting in reduced nerve conduction velocities in the demyelinating range as well as a length-dependent axonopathy. [MIM:605285]

     From NCBI Gene: 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]

Condition	Change (log2fold)	Comparison	Species	Experimental variables	Experiment name

Condition	Change (log2fold)	Comparison	Species	Experimental variables	Experiment name

The following transcription factors affect gene expression:

• Max
• HNF-4alpha1
• HNF-4alpha2

Tissue specificity:

Isoform 2 is erythrocyte specific. Isoform 3 and isoform 4 are testis-specific.

Enzyme Regulation:

Hexokinase is an allosteric enzyme inhibited by its product Glc-6-P.

Molecular Function:

• Glucokinase Activity
• Hexokinase Activity
• Atp Binding
• Glucose Binding
• Fructokinase Activity
• Mannokinase Activity

Biological Processes:

• Cellular Glucose Homeostasis
• Glycolytic Process
• Glucose Transport
• Canonical Glycolysis
• Establishment Of Protein Localization To Mitochondrion
• Maintenance Of Protein Location In Mitochondrion

*synonyms