KHK gene

ketohexokinase

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes ketohexokinase that catalyzes conversion of fructose to fructose-1-phosphate. The product of this gene is the first enzyme with a specialized pathway that catabolizes dietary fructose. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

From UniProt:

Catalyzes the phosphorylation of the ketose sugar fructose to fructose-1-phosphate.

From NCBI Gene:

  • Fructosuria, essential

From UniProt:

Fructosuria (FRUCT): Benign defect of intermediary metabolism. [MIM:229800]

Cytogenetic Location: 2p23.3, which is the short (p) arm of chromosome 2 at position 23.3

Molecular Location: base pairs 27,086,738 to 27,100,751 on chromosome 2 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 2p23.3, which is the short (p) arm of chromosome 2 at position 23.3