Primary Identifier | MGI:1096353 | Organism | mouse, laboratory |
Chromosome | 5 | NCBI Gene Number | 16548 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables ketohexokinase activity. Involved in fructose catabolic process to hydroxyacetone phosphate and glyceraldehyde-3-phosphate. Acts upstream of or within fructose metabolic process and regulation of glycogen metabolic process. Located in cytoplasm and nucleus. Is active in cytosol. Is expressed in alimentary system; central nervous system; liver; and retina. Human ortholog(s) of this gene implicated in essential fructosuria. Orthologous to human KHK (ketohexokinase). PHENOTYPE: Mice homozygous for alleles that do not produce isoform A or isoforms A and C exhibit normal fertility, development, blood chemistry, and tissue metabolite levels. [provided by MGI curators] |