Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Gene entry

KHK

ketohexokinase

Chromosome
2
Cytoband
2p23.3
Variants (rsID)
7

KHK is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2p23.3). Its official name is “ketohexokinase”. The reference table lists 7 variants (rsID) for this gene.

Clinically classified variants

3 reference-table entries with clinical significance.

  • rs1131375Benignsingle nucleotide variantEssential fructosuria
  • rs104893643Pathogenicsingle nucleotide variantEssential fructosuria
  • rs104893644Pathogenicsingle nucleotide variantEssential fructosuria

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.